Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

American Journal of Medical Genetics

Volumn 139 A, Issue 1, 2005, Pages 19-24

  Zahn, Susanne ^a   Ehrbrecht, Antje ^a   Bosse, Kristin ^a   Kalscheuer, Vera ^b   Propping, Peter ^a   Schwanitz, Gesa ^a   Albrecht, Beate ^c   Engels, Hartmut ^a  

^a UNIVERSITY OF BONN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Karyotype phenotype correlation; Partial monosomy 11q24; Partial trisomy 16q24; Subtelomeric FISH; Subtle familial translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME 16Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 11; CRYPTORCHISM; CYTOGENETICS; ECTOPIC TESTIS; FAMILIAL DISEASE; FAMILY HISTORY; FAMILY STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; HYPOGAMMAGLOBULINEMIA; INGUINAL HERNIA; JACOBSON SYNDROME; KARYOTYPE; KARYOTYPE PHENOTYPE CORRELATION; KIDNEY HYPOPLASIA; LEUKODYSTROPHY; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MONOSOMY; MUSCLE HYPOTONIA; NEWBORN; PATENT DUCTUS ARTERIOSUS; PEDIGREE ANALYSIS; PES EQUINUS; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; SCREENING TEST; SYNDROME DELINEATION; TELOMERE; THROMBOCYTOPENIA; TRISOMY;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 16; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; PEDIGREE; SYNDROME; TRANSLOCATION, GENETIC; TRISOMY;

EID: 27444440283     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30995     Document Type: Article

References (18)

1. Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. 2002. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107:285-293.
2. Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP. 2002. Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature. Am J Med Genet 113:339-345.
3. Engels H, Ehrbrecht A, Zahn S, Bosse K, Vrolijk H, White S, Kalscheuer V, Hoovers JM, Schwanitz G, Propping P, Tanke HJ, Wiegant J, Raap AK. 2003. Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. Eur J Hum Genet 11:643-651.
4. Giardino D, Finelli P, Gottardi G, Clerici D, Mosca F, Briscioli V, Larizza L. 2001. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child. Eur J Hum Genet 9:881-886.
5. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet 129A:51-61.
6. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. 1973. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23:568-585.
7. Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois MC, Prieur M, Raoul O, Colleaux L, Munnich A, Romana S, Vekemans M, Turleau C. 2001. Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype. Clin Genet 60:212-219.
8. Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. 2000. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332.
9. Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ. 1999. 11q- syndrome: Three cases and a review of the literature. Genet Couns 10:305-313.
10. Lewanda AF, Morsey S, Reid CS, Jabs EW. 1995. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 59:193-198.
11. Palczewska I, Niedzwiedzka Z. 2001. [Somatic development indices in children and youth of Warsaw]. Med Wieku Rozwoj 5:18-118.
12. Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T. 1995. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56:676-683.
13. Pivnick EK, Velagaleti GV, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT. 1996. Jacobsen syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 33:772-778.
14. Savary JB, Vasseur F, Manouvrier S, Daudignon A, Lemaire O, Thieuleux M, Poher M, Lequien P, Deminatti MM. 1991. Trisomy 16q23-qter arising from a maternal t(13;16)(p12;q23): Case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique. Hum Genet 88:115-118.
15. Seabright M. 1971. A rapid banding technique for human chromosomes. Lancet 2:971-972.
16. Sousa B, Rocha G, Doria S, Alves JR, Guedes B, Guimaraes H. 2004. New findings in partial trisomy 16q: Clinical report. Acta Paediatr 93:852-854.
17. Stasiewicz-Jarocka B, Haus O, Van Assche E, Kostyk E, Constantinou M, Rybalko A, Krzykwa B, Marcinkowska A, Barisic I, Kucinskas V, Katuzewski B, Schwanitz G, Midro AT. 2004. Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16. Clin Genet 66:189-207.
18. Tanke HJ, Wiegant J, van Gijlswijk RP, Bezrookove V, Pattenier H, Heetebrij RJ, Talman EG, Raap AK, Vrolijk J. 1999. New strategy for multi-colour fluorescence in situ hybridisation: COBRA: Combined Binary RAtio labelling. Eur J Hum Genet 7:2-11.