TY - JOUR
T1 - Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: A recognizable syndrome
AU - Mathijssen, Inge B.
AU - Hoovers, Jan M. N.
AU - Mul, Adri N. P. M.
AU - Man, Hai-Yen
AU - Ket, Jan L.
AU - Hennekam, Raoul C. M.
PY - 2005
Y1 - 2005
N2 - We report on a family with six persons in three generations who have mild mental retardation, behavioral problems, seizures, hearing loss, strabismus, dental anomalies, hypermobility, juvenile hallux valgus, and mild dysmorphic features. Classical cytogenetic analysis showed a partial duplication of chromosome 13q, array comparative genomic hybridization showed the duplication to span approximately 21 Mb, ranging from chromosome band 13q21.31 to 13q31.1. The relatively mild presentation of this large duplication may be explained by the relative paucity of genes in the chromosome region involved. Genotype-phenotype correlations in patients with similar partial 13q duplications are inconsistent. Emerging cytogenetic techniques will allow more reliable genotype -phenotype correlations. (c) 2005 Wiley-Liss, Inc
AB - We report on a family with six persons in three generations who have mild mental retardation, behavioral problems, seizures, hearing loss, strabismus, dental anomalies, hypermobility, juvenile hallux valgus, and mild dysmorphic features. Classical cytogenetic analysis showed a partial duplication of chromosome 13q, array comparative genomic hybridization showed the duplication to span approximately 21 Mb, ranging from chromosome band 13q21.31 to 13q31.1. The relatively mild presentation of this large duplication may be explained by the relative paucity of genes in the chromosome region involved. Genotype-phenotype correlations in patients with similar partial 13q duplications are inconsistent. Emerging cytogenetic techniques will allow more reliable genotype -phenotype correlations. (c) 2005 Wiley-Liss, Inc
U2 - https://doi.org/10.1002/ajmg.a.30758
DO - https://doi.org/10.1002/ajmg.a.30758
M3 - Article
C2 - 15889415
SN - 1552-4825
VL - 136A
SP - 76
EP - 80
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 1
ER -