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Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor

✍ Scribed by Suwa, Kiyotaka; Momoi, Mariko Y.; Yamagata, Takanori; Mori, Yuuko

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 12 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980707)78:3<291::aid-ajmg17>3.0.co;2-a

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✦ Synopsis

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver t u m o r w i t h a n i n c r e a s e d s e r u m ␣fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed. Am. J.

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