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Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11

✍ Scribed by Stevens, Cathy A. ;Qumsiyeh, Mazin B.

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 500 KB
Volume: 55
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320550420

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✦ Synopsis

We report on a 4-year-old boy with typical frontonasal dysostosis and an apparently balanced de novo translocation involving chromosomes 3, 7, and 11, and four breakpoints. The karyotype was 46,XY,t(7;3)(3;11) (7pter--+7q21.3:3q27-+3qter;3pter+3q23::11q21 -,rllqter;llpter+llq21::3q23--+3q2~.7q21.3-+ 7qter). In situ hybridization with a chromosome 3 painting probe confirmed the interpretation from GTG banding. The child had a widow's peak, marked hypertelorism, absence of the nasal tip, and widely separated nares. He also had an atrial septal defect, micropenis, small testes, clubfeet, scoliosis, block C2-4, and structural brain abnormalities on MRI. In review we found two other cases of frontonasal dysostosis with chromosome abnormalities, neither of which was similar to our case. The presence of a de novo (apparently) balanced translocation in our patient may help to locate the gene($ for frontonasal dysplasia and perhaps other midline craniofacial malformations.

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