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

Abstract

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.

A 4q21‐q22 deletion in a girl with severe growth retardation

“…Interstitial deletions, including chromosomal region 4q21‐q22, have been described in at least 20 cases (1–18). Although the deleted regions among patients were different, most of them showed growth and developmental retardation.…”

Clinical comparison between terminal and interstitial 4q deletion in two unrelated children

“…Other reported anomalies include congenital hearing impairment [18, 42], hypercalciuria and kidney calci cation [43], familial combined hyperlipidemia [44], pain insensitivity [45] and bleeding diathesis [46]. Suwa and Momol report a boy with a proximal interstitial 4q deletion who developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein and rapid growth [47].…”