BRIEF CLINICAL REPORT - INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-4 [DEL(4)(Q21.22Q23)] AND A LIVER-TUMOR

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 wei ght, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyl y of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malfo rmations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein level and rapid growth . The patient carried a deletion of chromosome 4 involving the 4q21-q2 2 region that was reported to form a unique syndrome. The absence of c entral 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 betwe en the liver tumor and chromosomal anomaly are discussed. (C) 1998 Wil ey-Liss, Inc.