Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.

Abstract

SUMMARYWe report a malformed girl with a single chromosome band deletion of 4q26 in peripheral lymphocytes. This patient is the fourth case reported with an interstitial deletion involving 4q26 and has the smallest deletion of those reported. Deletion mapping indicates that psychomotor retardation, coloboma, prominent forehead, epicanthus, broad based nose, and broad, thin upper lip are associated with monosomy 4q26, and that gene(s) associated with Rieger syndrome can be excluded from the 4q26 segment.To our knowledge there have been only three previously described cases of interstitial deletion 4q involving q26,'-3 although more than 20 cases of terminal deletion have been reported. We present here a malformed girl with a tiny interstitial deletion of 4q. The deletion involves only one band, 4q26, a very small part of chromosome 4.

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)

“…However, there might be a bias toward more severely affected patients under the assumption that those as mildly affected as our proposita might rather have a gene mutation and not a chromosome deletion. One patient died at the age of 23 days [Raczenbeck et al, 1991], and another was reported at 2 years of age only [Motegi et al, 1988]. Dysmorphic patterns were mild and indistinct in all, and the expression of eye anomalies ranged from none to severe [Schinzel, 2001].…”

“…Schinzel et al 1997 studied a patient with a deletion at 4q24–q26 inherited from a father with normal eyes, thus providing evidence that the Rieger eye malformation can be a result of haploinsufficiency rather than to an altered gene product interfering with a normal protein. As there are scarce descriptions of interstitial 4q deletions involving the critical RS chromosomal segment [Ligutic et al, 1981; Motegi et al, 1988; Fryns and van den Berghe, 1992; Vaux et al, 1992; Schinzel et al, 1997; Becker et al, 2003], we report on a long‐term observation of a new patient, from birth to 19 years of age, to determine her outcome after treatment and stimulation programs.…”

Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review

“…By contrast with these benign familial cases, de novo deletions of G-dark bands 4q26 (Motegi et al, 1988), 8q24.12 (Fryns and Van den Berghe, 1986), 15q21 (Fryns et al, 1982), and 9q3 1.3 (Magenis et al, 1989) have each been ascertained through individuals with congenital abnormality. This contrast may be a result of ascertainment bias, or the number and nature of deleted loci.…”

Glaucoma genetics, present and future

“…A region containing an ARS gene was originally narrowed to 4q25 through examination of deletion and translocation patients [49–51]. Murray et al used genetic linkage experiments to confirm the mapping of this ARS gene [52].…”