Another patient with 12q13 microduplication

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2004-2008

  Bertoli, M ^a   Alesi, V ^a   Gullotta, F ^b   Zampatti, S ^b   Abate, M R ^b   Palmieri, C ^a   Novelli, A ^c   Frontali, M ^b   Nardone, A M ^b  

^a FATEBENEFRATELLI HOSPITAL   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

12q13 duplication; Hyperkeratosis; Intellectual disability; Wolf Hirschhorn syndrome phenocopy

Indexed keywords

RANITIDINE;

ARTICLE; ATAXIA; CASE REPORT; CHILD; CHROMOSOME 12Q; CHROMOSOME 12Q13 DUPLICATION; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CLEFT PALATE; DNA MICROARRAY; FACE DYSMORPHIA; FEMALE; FETUS KARYOTYPING; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; HEAD CIRCUMFERENCE; HUMAN; HYPERTELORISM; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; LOW SET EAR; MICROCEPHALY; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; SCHOOL CHILD; WOLF HIRSCHHORN SYNDROME;

12Q13 DUPLICATION; HYPERKERATOSIS; INTELLECTUAL DISABILITY; WOLF-HIRSCHHORN SYNDROME PHENOCOPY;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; REVIEW LITERATURE AS TOPIC; WOLF-HIRSCHHORN SYNDROME;

EID: 84880757756     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35991     Document Type: Article

References (11)

1. Battaglia A, Filippi T, Carey JC. 2008. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision. Am J Med Genet Part C 148C:246-251.
2. Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B. 2007. Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlation. Eur J Med Genet 50:94-102.
3. Dallapiccola B, Bernardini L, Novelli A, Mingarelli R. 2009. Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1. Am J Med Genet Part A 149A:546-548.
4. de Muelenaere A, Fryns JP, Van Den Berghe H. 1980. Partial distal 12q trisomy. Ann Genet 23:251-253.
5. Dixon JW, Costa T, Teshima IE. 1993. Mosaicism for duplication 12q (12q13→q24.2) in a dysmorphic male infant. J Med Genet 30:70-72.
6. Neville BG, Berry AC, Stoddart Y. 1985. A case of malignant spinal cord ependymoma in association with a duplication of part of the long arm of chromosome 12. J Med Genet 22:154.
7. Patil SR, Bosch EP, Hanson JW. 1983. First report of mosaic trisomy 12 in a liveborn individual. Am J Med Genet 14:453-460.
8. Pratt NR, Bulugahapitiya DT. 1983. Partial trisomy 12q: A clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q. J Med Genet 20:86-89.
9. Roberts SH, Mattina T, Laurence KM, Sorge G, Pavone L. 1981. Partial trisomy 12q: Report of a case and review. J Med Genet 18:470-473.
10. Vermeesch JR, Syrrou M, Salden I, Dhondt F, Matthijs G, Fryns JP. 2002. Mosaicism for duplication 12q (12q13 ! 12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant. J Med Genet 39:e72.
11. Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G. 2000. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94:254-261.