TY - JOUR
T1 - Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies
T2 - Report of two new patients and review of the literature
AU - Pandya, A.
AU - Braverman, N.
AU - Pyeritz, R. E.
AU - Ying, K. L.
AU - Kline, A. D.
AU - Falk, R. E.
PY - 1995
Y1 - 1995
N2 - We report on unusual manifestations in 2 unrelated children with interstitial deletion of 6q, with nearly identical breakpoints of 6q16.2q23.1 and 6q16.3q22.3. Major findings include growth retardation, profound developmental delay, microcephaly, facial anomalies, sparse hair, congenital heart defects, and striking hand malformations. Discordant anomalies were duodenal atresia and hypoplastic genitalia in 1 child. Split-hand defect, polydactyly, gastrointestinal anomalies, and ectodermal dysplasia have not been described previously in children with 6q deletion. The presence of hand malformations in 2 children with similar deletion breakpoints strongly suggests that this is a candidate region for one or more genes involved in limb development. Comparison of the clinical findings of other patients with 6q2 deletion suggests a recognizable phenotype.
AB - We report on unusual manifestations in 2 unrelated children with interstitial deletion of 6q, with nearly identical breakpoints of 6q16.2q23.1 and 6q16.3q22.3. Major findings include growth retardation, profound developmental delay, microcephaly, facial anomalies, sparse hair, congenital heart defects, and striking hand malformations. Discordant anomalies were duodenal atresia and hypoplastic genitalia in 1 child. Split-hand defect, polydactyly, gastrointestinal anomalies, and ectodermal dysplasia have not been described previously in children with 6q deletion. The presence of hand malformations in 2 children with similar deletion breakpoints strongly suggests that this is a candidate region for one or more genes involved in limb development. Comparison of the clinical findings of other patients with 6q2 deletion suggests a recognizable phenotype.
KW - interstitial deletion 6q2
KW - limb malformation
KW - polydactyly
KW - recognizable phenotype
KW - split- hand
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U2 - 10.1002/ajmg.1320590109
DO - 10.1002/ajmg.1320590109
M3 - Article
C2 - 8849008
AN - SCOPUS:0029084891
SN - 1552-4825
VL - 59
SP - 38
EP - 43
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -