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 weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, post-axial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. 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-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.
Suwa
K
K
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Momoi
M Y
MY
Yamagata
T
T
Mori
Y
Y
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D001724:Birth Weight; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006330:Heart Defects, Congenital; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007564:Japan; D007621:Karyotyping; D008113:Liver Neoplasms / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities; D010413:Penis / Q000002:abnormalities; D017689:Polydactyly; D011597:Psychomotor Performance