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.…”

A Girl with del(4)(q33) And Occipital Encephalocele: Clinical Description And Molecular Genetic Characterization of A Rare Patient

“…Brain anomalies were more common in interstitial than in terminal deletions of 4q (Strehle and Bantock 2003). Epilepsy was a frequent feature (Kempen 1975;Raczenbeck et al 1991;Suwa et al 1998) and several children had structural abnormalities, for instance an absent or hypoplastic corpus callosum (Fagan and Gill 1989;Fukushima et al 1992), cerebral or cerebellar atrophy (Hoo et al 1986;Koppitch et al 1990;Slavotinek et al 1997;Strehle et al 2001) or dilated ventricles/macrocephaly (Frappaz et al 1983;Beall et al 1998;Rose et al 1991;Kulharya et al 1995). The only published case of a 4q deletion associated with an encephalocele was described by Nowaczyk et al (1997).…”

Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16

“…FISH FISH results suggested that the CCR's were formed by two different translocations and one insertion (figure 2c-i Array CGH An array-CGH analysis (NimbleGen ® HG 18 Tiling 385K CGH v2.0) was initiated and a 14,7 Mb gross deletion was found in chromosome 4q (del(4)(q21.23q23)). The final karyotype designation is 46, XY,der(1),der(2),der(4),t(8;14)(q13;q13),der (16).ish t(1:16)(q42;q13),ins(4;2)(q21;q33q37)?,t(8;14)(q13;q13).arr(GRCh37) 4q21.23q23(85,600,000-100,300,000) x1dn (Figure 2b, figure 3) 4)(q21.23q23) (8,9,10,11,12,13,14,15,16,18,19,20,21,22,23). Eight of them had a prominent forehead, seven of them had hypotonia, low-set ears, 6 of them had mental retardation, short stature, depressed nasal bridge, 4 of them had micrognathia, 3 of them had high palate, 2 of them had short limbs, macrocephaly, hydrocephaly, delayed closure of fontanelles, speech delay and one had short neck, tapering fingers, cryptorchidism which were all seen in our patient anomaly (Table 1).…”