Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2

Abstract

We present clinical outcome, through several years of follow-up, of 4 mentally retarded patients, each with a small interstitial deletion in the long arm of chromosome 2, within a region on which clinical reports are infrequent. Our patient 1 was found to have del(2)(q22.3q23.3); patients 2 and 3, del(2)(q23.3q24.2); and patient 4, del(2) (q24.2q31). By comparison of our cases with each other and with those previously published with comparable interstitial deletion, we attempted to identify characteristic clinical findings. Short neck with excessive cervical skin was seen with monosomy of chromosome 2 bands q22.3-q23.3, while hypertrichosis and a peculiar high pitched cry were seen with monosomy of chromosome 2 bands q23.3-q24.2. As suggested by Moller et al. [1984: Hum Genet 68:77-86], a cleft between the first and second toes was seen with monosomy of chromosome 2 bands q24.2-q31. In addition, seizure disorder was present in patients 1 and 4 (with the more proximal and distal deletions, respectively).

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

“…Seizures are frequent but inconsistent in those circumstances, as opposed to seizures which are a characteristic finding in the submicroscopic cases. The pattern of clinical features has sometimes been described quite close to our “pseudo-Angelman” patients19 but a more malformative VATER-like phenotype has also been reported in a girl with a 2q22q24.2 deletion 20. However, the boundaries of the previously described 2q22q24 deletions were determined only by banding techniques and it is difficult to conclude if these deletions correspond to the highly resolved boundaries determined by array CGH.…”

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

“…These findings further support the contention that one or more genes involved in craniofacial development are harboured at these loci, although micrognathia may also be viewed as a common, non-specific feature of such deletions. 43 There is only a single reported case of non-syndromic RS implicating 2q32 35 but no evidence of a locus at 2q23-24. In contrast, four examples of RS including the current study have been described with translocations involving the 17q23.3-17q25 region 33 34 36 (table 1).…”

Hirschsprung disease, associated syndromes and genetics: a review

“…Some chromosomal interstitial deletions reported in combination with HSCR, have been important for the identification of HSCR predisposing genes, namely: (1) 10q11.2 interstitial deletion observed in a few patients with L-HSCR or TCA38 146 leading to the mapping and identification of the first HSCR predisposing gene ( RET ); (2) 13q22.1-32.1 interstitial deletion in patients with S-HSCR leading to the mapping of the second gene ( EDNRB )164 – 166; (3) 2q22-23 interstitial deletion syndrome in patients with a multiple congenital anomaly–mental retardation (MCA-MR) syndrome with HSCR or severe chronic constipation further delineated as Mowat-Wilson syndrome (table 3),133 134 147 leading to the identification of the ZFHX1B gene (previously named SIP1 gene) 135…”