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Duplication of 7p21.2?pter due to maternal 7p;21q translocation: Implications for critical segment assignment in the 7p duplication syndrome

✍ Scribed by Cai, Tao; Yu, Ping; Tagle, Danilo A.; Xia, Jiahui

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 67 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991008)86:4<305::aid-ajmg1>3.0.co;2-b

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✦ Synopsis

We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. Cytogenetic analysis utilizing high resolution chromosome banding technique showed an unbalanced karyotype consisting of 46,XY,add(21)(q22.3) that originated from maternal balanced translocation between chromosomes 7 and 21. Fluorescence in situ hybridization (FISH) using microdissected library probe pool from chromosome 7 confirmed the additional material on 21q was derived from chromosome 7. Our results indicated that the patient had an unbalanced translocation, 46,XY,der(21)t(7;21)(p21.2;q22.3)mat, which resulted in duplication for distal 7p. Our patient is similar to reported cases with a 7p15→pter or larger duplication of 7p, suggesting that the critical segment causing the characteristic phenotype of 7p duplication syndrome, including large anterior fontanel, exists at 7p21.2 or 7p21.2→pter.

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