Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 117 C, Issue 1, 2003, Pages 49-56

  Cohen Jr , M Michael ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

Author keywords

Beckwith Wiedemann syndrome; Fragile X syndrome; Hemihyperplasia; Infants of diabetic mothers; Neonatal hypoglycemia; Neurofibromatosis type 1; Perlman syndrome; Proteus syndrome; Simpson Golabi Behmel syndrome; Sotos syndrome; Weaver syndrome

Indexed keywords

BANNAYAN RILEY RUVALCABA SYNDROME; CENTRAL NERVOUS SYSTEM DISEASE; CHROMOSOMAL SYNDROME; COWDEN SYNDROME; FRAGILE X SYNDROME; HEMIHYPERPLASIA; HUMAN; MACROCEPHALY AUTISM SYNDROME; MENTAL DEFICIENCY; MULTIPLE CANCER; NEUROFIBROMATOSIS; NEWBORN HYPOGLYCEMIA; OVERGROWTH SYNDROME; PALLISTER KILLIAN SYNDROME; PEHO SYNDROME; PRIORITY JOURNAL; REVIEW; SIMPSON GOLABI BEHMEL SYNDROME; SOTOS SYNDROME; STURGE WEBER SYNDROME; SYNDROME DELINEATION; WEAVER SYNDROME; CENTRAL NERVOUS SYSTEM; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; GROWTH DISORDER; MULTIPLE MALFORMATION SYNDROME; NEWBORN; SYNDROME;

ABNORMALITIES, MULTIPLE; CENTRAL NERVOUS SYSTEM; DIAGNOSIS, DIFFERENTIAL; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; MENTAL RETARDATION; SYNDROME;

EID: 0041304765     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.10013     Document Type: Review

References (105)

1. Affi AK, Dolan KD, Van Gilder JC, Fincham RW. 1988. Ventriculomegaly in neurofibromatosis-1. Neurofibromatosis 1:299-305.
2. Alexander GL, Norman RM, 1960. The Sturge-Weber syndrome. Bristol: Wright and Son. p 1-5, 55-70, 80-82.
3. Al-Gazali LI, Bakalinova D, Varady E, Scorer J, Nork M. 1997. Further delineation of Nevo syndrome. J Med Genet 34:366-370.
4. Ardinger HH, Hanson JW, Harrod MJE, Cohen MM Jr Tibbles JAR, Welch JP, Young-Wee T, Sommer A, Goldberg R, Shprintzen RJ, Sidoti EJ, Leichtman LG, Hoyme HE. 1986. Further delineation of Weaver syndrome. J Pediatr 108:228-235.
5. Avansino JR, Dennis TR, Spallone P, Stock AD, Levin ML. 1999. Proximal 5p trisomy resulting from a market chromosome implicates band 5p 13 in 5p trisomy syndrome. Am J Med Genet 87:6-41.
6. Aylett SE, Neville BGR, Cross JH, Boyd S, Chong WK, Kirkham FJ. 1999. Sturge-Weber syndrome: cerebral haemodynamics during seizure activity. Dev Med Child Neurol 41:480-485.
7. Backes M, Genc B, Schreck J, Doerfler W, Lehmkuhl G, von Gontard A. 2000. Cognitive and behavioral profile of fragile X boys: correlations to molecular data. Am J Med Genet 95:150-156.
8. Bielanska MM, Khalifa MM, Duncan AMV. 1996. Brief clinical report. Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review ofthe literature and expansion of the phenotype. Am J Med Genet 65:104-108.
9. Chiron C, Raynaud C, Tzourio N. 1989. Regional cerebral blood flow by SPECT imaging in Sturge-Weber disease: an aid for diagnosis. J Neurol Neurosurg Psychiatry, 52:1402-1409.
10. Chudley AE, Hagerman RJ. 1987. Fragile X syndrome. J Pediatr 110:821-831.
11. Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RCM, Mueller RF, Brueton L, Super M, Steen-Johnsen J, Donnai D. 1997. Macrocephaly with cutis marmorata, haemangioma and syndactyly - a distinctive overgrowth syndrome. Clin Dysmorphol 6:291-302.
12. Clementi M, Battistella PA, Rizzi L, Boni S, Tenconi R. 1996. Headache in patients with neurofibromatosïs type 1. Headache J 36:10-13.
13. Cohen MM Jr. 1988. Understanding Proteus syndrome, unmasking the Elephant man, and stemming elephant fever. Neurofibromatosis 1:260-280.
14. Cohen MM Jr. 1989. A comprehensive and critical assessment of overgrowth and overgrowth syndromes. In: Harris H, Hirschhorn K, editors. Advances in human genetics. Vol 18, Ch 4. New York: Plenum Press. p 181-303; Addendum p 373-376.
15. Cohen MM Jr. 1993. Proteus syndrome: clinical evidence for somatic mosaicism and selective review. Am J Med Genet 47:645-652.
16. Cohen MM Jr. 1999. Overgrowth syndromes: an update. Adv Pediatr 46:441-491.
17. Cohen MM Jr. 2000. Klippel-Trenaunay syndrome: a critical analysis. Am J Med Genet 93:171-175.
18. Cohen MM Jr, Hayden PW. 1979. A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser 15(5B):291-296.
19. Cohen MM Jr, Neri G, Weksberg R. 2002. Overgrowth syndromes. New York: Oxford University Press.
20. Cole TRP, Hughes HE. 1990. Sotos syndrome. J Med Genet 27:571-576.
21. Cole TRP, Hughes HE. 1991. Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome? Am J Med Genet 41:115-124.
22. Cole TRP, Hughes HE. 1994. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 31:20-32.
23. Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. 1979. Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am J Med Genet 69:166-168.
24. DiLiberti JH, Budden S. 1988. Transient motor asymmetry in young children with the Ruvalcaba-Myhre-Smith syndrome, Ninth annual David W. Smith workshop on malformations and morphogenesis. Oakland, California, August 2-7.
25. DiLiberti JH, Weleber RG, Budden S. 1983. Ruvalcaba-Myhre-Smith syndrome: case report with probable autosomal-dominant inheritance and additional manifestations. Am J Med Genet 15:491-495.
26. Dumíc M, Vukelic D, Plavsic V, Cviko A, Sokolic L. Filipovic-Grcic B. 1998. Nevo syndrome. Am J Med Genet 76:67-70.
27. Eng C, Murday V, Seal S, Mohammed S, Hodgson SV, Chaudray MA, Fentiman IS, Ponder BA, Ecles RA. 1994. Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? J Med Genet 31:456-461.
28. Enjorlas O, Mulliken JB. 1998. Vascular tumors and vascular malformations. Adv Dermatol 13:375-422.
29. Freeman BM, Hoon AH Jr, Breiter SN, Hamosh A. 1999. Letter to the editor: pachygyria in Weaver syndrome. Am J Med Genet 86:395-397.
30. Friedman JM, Birch PH. 1997. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 70:138-143.
31. Frydman M, Berkenstadt M, Raas-Rothschild A, Goodman RM. 1990. Megalocornea, macrocephaly, mental and motor retardation (MMMM). Clin Genet 38:149-154.
32. Fryns J-P. 1984. The fragile X syndrome: a study of 83 families. Clin Genet 26:497-528.
33. Fryns J-P 1986. The female and the fragile X: a study of 144 obligate female carriers. Am J Med Genet 23:157-169.
34. Fryns J-P, Jacobs J, Kleczkowska A, van den Berghe H. 1984. The psychological profile of the fragile X syndrome. Clin Genet 25:131-134.
35. Fujita Y, Mochizuki D, Mori Y, Nakamoto N, Kobayashi M, Omi K, Kodama H, Yanagawa Y, Abe T, Tsuzuku T, Yamanouchi Y, Takano T. 2000. Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22) (q13.1q13.2). Am J Med Genet 92:195-199.
36. Gould EL, Loesch DZ, Martin MJ, Hagerman RJ, Armstrong SM, Huggins RM. 2000. Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study. Am J Med Genet 95:307-315.
37. Haltia M, Somer M. 1993. Infantile cerebellooptic atrophy Neuropathology of the progressive encephalopathy syndrome with edema, hysarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol 85:241-247.
38. Hanssen AMN, Fryns JP. 1995. Cowden syndrome. J Med Genet 32:117-119.
39. Hanssen AMN, Werquin H, Suys E, Fryns JP. 1993. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin Genet 44:281-286.
40. Higginbottom MC, Schultz E 1982. The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. Pediatrics 69:632-634.
41. Horn D, Majewski F, Hildebrandt B, Körner H. 1995. Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts. J Med Genet 32:68-71.
42. Irwin SA, Patel B, Idupulapati M, Harris JB, Crisostomo RA, Larsen BP, Kooy F, Willems PJ, Cras P, Kozlowski PB, Swain RA, Weiler IJ, Greenough WT 2001. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet 98:161-167.
43. Lachiewicz AM, Dawson DV, Spiridigliozzi GA. 2000. Physical characteristics ofyoung boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet 92:229-236.
44. Leonard CO. 1988. Prenatal diagnosis of the large for gestational age fetus. Ninth annual David W. Smith workshop on malformations and morphogenesis. Oakland, California, August 3-7.
45. Longy M, Lacombe D. 1996. Cowden disease. Report of a family and review. Ann Génét 39:35-42.
46. Lonlay-Debeney P de. Poggi-Travert F, Fournet JC, Sempoux C, Vici CD, Brunelle F, Touati C, Rahier J, Junien C, Nihoul-Fékété C, Robert J-J, Saudubray J-M. 1999. Clinical features of 52 neonates with hyperinsulinism. N Engl J Med 340:1169-1175.
47. Malamitsi-Puchner A, Kitsiou S, Bartsocas CS. 1987. Proteus syndrome in an 18-month-old boy. Am J Med Genet 27:119-126.
48. Mangano L, Palmeri S, Dotti MT, Moschini F, Federico A. 1989. Macrosomia and mental retardation: evidence of autosomal dominant inheritance in four generations. Am J Med Genet 32:67-71.
49. Maria BL, Neufield JA, Rosainz LC, Ben-David K, Drane WE, Quisling RG, Hamed LM. 1998a. High prevalence of bihemispheric structural and functional defects in Sturge-Weber syndrome. J Child Neurol 13:595-605.
50. Mara BL, Neufield JA, Rosainz LC, Drane WE, Quisling RG, Ben-David R, Hamed LM. 1998b. Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. J Child Neurol 13:606-618.
51. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Tolmie JL, Trembath R, Winter RM, Zackai EH, Zori RT, Weng L-P, Dahia PLM, Eng C. 1999. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8:1461-1472.
52. Marti-Bonmati L, Menor F, Mulas F. 1993. The Sturge-Weber syndrome: correlation between the clinical status and radiological CT and MRI findings. Child Nerv Syst 9:107-109.
53. Mathieu M, Piussan Ch, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Joye N, Taillemite JL, Bouillie J, Eschard C, Motte J, Journel H. 1997. Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children). Ann Génét 40:45-54.
54. Mayatepek E, Kurczynski TW, Ruppert ES, Hennessy JR, Brinker RA, French BN. 1989. Brief clinical report: expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings. Am J Med Genet 32:402-406.
55. Mbarek O, Marouillat S, Martineau J, Barthélémy C, Müh J-P, Andres C, 1999. Association study of the NF1 gene and autistic disorder. Am J Med Genet 88:729-732.
56. Melo DG, Pina-Neto JM, Acosta AX, Daniel J, de Castro V, Santos AC. 1999. Letter to the editor: neuroimaging and echocardiographic findings in Sotos syndrome. Am J Med Genet 90:432-433.
57. Miles JH, Zonana J, MacFarlane J, Aleck KA, Bawle E. 1984. Macrocephaly with hemangiomas: Bannayan-Zonana syndrome. Am J Med Genet 19:225-234.
58. Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJR, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. 1997. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 70:67-73.
59. Moretti-Ferreira D, Koiffmann CP, Souza DH, Diament AJ, Wajntal A. 1989. Macrocephaly, multiple lipomas and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant focus with at least two different allelic forms? Am J Med Genet 34:548-551.
60. Moretti-Ferreira D, Koiffinann CP, Listik M, Setian N, Wajntal A. 1993. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome. Am J Med Genet 46:555-558.
61. Musumeci SA, Ferri R, Elia M, Colognola RM, Bergonzi P, Tassinari CA. 1991. Epilepsy and fragile X syndrome: a follow-up study. Am J Med Genet 38:511-513.
62. Naqvi S, Cole T, Graham JM Jr. 2000. Cole-Hughes macrocephaly syndrome and associated autistic manifestations. Am J Med Genet 94:149-152.
63. Neave C. 1984. Congenital malformation in offspring of diabetics. Perspect Pediatr Pathol 8:213-222.
64. Neri G, Martini-Neri ME, Katz BE, Opitz JM. 1984. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet 19:195-207.
65. Neri G, Martini-Neri ME, Opitz JM, Freed JJ. 1985. The Perlman syndrome: clinical and biological aspects. In: Papadatos CJ, Bartsocas CS, editors. Endocrine genetics and genetics of growth. New York: Alan R. Liss. p 269-276.
66. Neri G, Gurrieri F, Zanni G, Lin A. 1998a. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 79:279-283.
67. Neri G, Steindl K, Mazzei A, Battaglia A, Cappa M. 1998b. Nonsyndromal overgrowth in males with mild psychomotor delay. Am J Med Genet 79:291-293.
68. Neuhauser G, Kaveggia EG, France TD, Opitz JM. 1975. Syndrome of mental retardation, seizures, hypotonic cerebal palsy and megalocorneae, recessively inherited. Z Kinderheilk 120:1-18.
69. North KN. 1993. Neurofibromatosis type 1: establishment of a clinic and review of the first 200 patients. J Child Neurol 8:395-403.
70. North KN. 1999. Cognitive function and academic performance. In: Friedman JM, Gutmann DH, MacCollin M, Riccardi VM, editors. Neurofibromatosis: phenotype, natural history and pathogenesis. 3rd ed. Baltimore: Johns Hopkins University Press.
71. North K. 2000. Neurofibromatosis type 1. Am J Med Genet 97:119-127.
72. Okudaira Y, Arai H, Sato K. 1997. Hemodynamic compromise as a factor in clinical progression of Sturge-Weber syndrome. Childs Nerv Syst 13:214-219.
73. Opitz JM, Weaver DW, Reynolds JF Jr. 1998. The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 79:294-304.
74. Ozonoff S, 1999. Cognitive impairment in neurofibromatosis type 1, Am J Med Genet 89:45-52.
75. Partington MW, Fagan K, Sonbjaki V, Turner C. 1997. Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resuting in a new overgrowth syndrome. J Med Genet 34:719-728.
76. Powell BR, Budden SS, Buist NRM. 1993. Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. J Pediatr 123:70-75.
77. Rauch A, Trautmann U, Pfeiffer RA. 1996. Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". Am J Med Genet 63:243-249.
78. Reichenbach H, Holland H, Dalitz E, Demandt C, Meiner A, Chudoba I, Lemke J, Claussen U, Froster UG. 1999. De novo complete trisomy 5p: clinical report and FISH studies. Am J Med Genet 85:447-451.
79. Reiss AL, Aylward E, Freund LS, Joshi PK, Bryan RN. 1991. Neuroanatomy of fragile X syndrome. The posterior fossa. Ann Neurol 29:26-32.
80. Reiss AL, Lee J, Freund L. 1994. Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 44:1317-1324.
81. Reiss AL, Abrams MT, Greenlaw R, Freund L, Denekla MB. 1995. Neurodevelopmental effects of the FMR1 full mutation in humans, Nat Med 1:159-167.
82. Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, Opitz JM. 1987. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet 27:257-274.
83. Richieri-Costa A, Guion-Almeida ML, Cohen MM Jr. 1993. Newly-recognized autosomal recessive MCA/ MR/ overgrowth syndrome. Am J Med Genet 47:278-280.
84. Rizzo R, Pavone L, Sorge G, Parano E, Baraitser M. 1990. Proteus syndrome: report of a case with severe brain impairment and fatal course. J Med Genet 27:399-402.
85. Robertson SP, Gattas M, Rogers M, Ades LC. 2000. Macrocephaly-cutis marmorata telangiectatica: report of five patients and a review of the literature. Clin Dysmorphol 9:1-9.
86. Romain Dr, Goldsmith J, Cairney H, Columbano-Green LM, Smythe RH, Parfitt RG. 1990. Partial monosomy for chromosome 22 in a patient with del(22)(pter→ql3.1:: q13.33→qter). J Med Genet 27:588-589.
87. Salonen R, Somer M, Haltia M, Lorentz M, Norio R. 1991. Progressive encephalopathy with edema, hypsarrhythmia, and opdc atrophy (PEHO syndrome). Clin Genet 39:287-293.
88. Schaefer GB. 2000. Letter to the editor: response to the letter to the editor by Gusmao Melo et al.: "Neuroimaging and echocardiographic findings in Sotos syndrome". Am J Med Genet 90:434.
89. Schaefer GB, Bodensteiner JB, Buehler BA. 1997. The neuroimaging findings in Sotos syndrome. Am J Med Genet 68:462-465.
90. Schapiro MB, Murphy DGM, Hagerman RJ, Azari NP, Alexandr GE, Miezejeski CM, Hinton VJ, Horwitz B, Haxby JV, Kumar A, White B, Grady CL. 1995: Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism. Am J Med Genet 60:480-493.
91. Schilke K, Schaefer F, Waldherr R, Rohrschneider W, John C, Himbert U, Mayatepek E, Tariverdian G. 2000. A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurobiological deficits. Am J Med Genet 91:29-33.
92. Simonati A, Colamaria V, Bricolo A, Dalla-Bernardina B, Pizzuto N. 1994. Microgyria associated with Sturge-Weber angiomatosis. Child Nerv Syst 10:392-395.
93. Starink TM, van den Veen JPW, Arwert F, de Waal LP, de Lange GG, Eriksson AW. 1986. The Cowden syndrome: a clinical and genetic study in 31 patients. Clin Genet 29:222-233.
94. Stevenson RE, Schroer RJ, Skinner C, Fender D, Simenson RJ. 1997. Autism and macrocephaly. Lancet 349:1744-1745.
95. Struthers JL, Cuthbert CD, Khalifa MM. 1999. Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases. Am J Med Genet 84:111-115.
96. Sujansky E, Conradi S. 1995. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 57:35-45.
97. Theobald TM, Hay DA, Judge C. 1987. Individual variation and specific cognitive deficits in the fra(X) syndrome. Am J Med Genet 28:1-11.
98. Van Eeghen AM, van Gelderen I, Hennekam RCM. 1999. Costello syndrome: report and review. Am J Med Genet 82:187-193.
99. Van Es S, North K, McHugh K, de Silva M. 1996. MRI abnormalities in children with NF1. Paediatr Radiol 26:478-487.
100. Vargha-Khadem F, Carr L, Isaacs E, Brett E, Adams C, Mishkin M. 1997. Onset of speech after left hemispherectomy in a nine-year-old boy. Brain 120:159-182.
101. Veenema H, Veenema T, Geraedts J. 1987. The fragile X syndrome in a large family. II. Psychological investigation. J Med Genet 24:32-38.
102. Wajntal A, Moretti-Ferreira D, De Souza DH, Koiffmann CP. 1993. Cytogenetic evidence of involvement of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth. DNA Cell Biol 12:227-231.
103. Wisniewski KE, Segan SM, Miezejeski CM, Sersen EA, Rudelli RD. 1991. The fra(X) syndrome: neurological, electrophysiological, and neuropathological abnormalities. Am J Med Genet 38:476-480.
104. Zollino M, Bajer J, Neri G. 1999a. Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a pitfall in prenatal diagnosis. Prenat Diagn 19:178-185.
105. Zollino M, Tiziano F, Di Stefano C, Neri G. 1999b. Partial duplication of the long arm of chromosome 15q: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome. Am J Med Genet 87:391-394.