Interstitial deletion 2q14q21

Abstract

A girl with multiple congenital anomalies and a tendency to severe pyogenic infections was found to have an interstitial deletion of chromosome band 2q14----q21. Unusual facial manifestations included enophthalmos, long philtrum, micrognathia, narrow forehead, prominent glabella, and depressed nasal bridge. Unilateral corneal clouding, with Peters-like anomaly; agenesis of the corpus callosum; brain atrophy; and heart, kidney, hand, and dermatoglyphic anomalies were additional findings. Eye anomalies were observed in five of 22 patients with deletions of chromosome 2q. In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with microphthalmia, corneal clouding, cataracts, and Peters anomaly. Measurement of protein C and interleukin-1 (IL-1) did not show a gene dose effect, but the pyogenic infections and low IgA found in this patient may reflect an abnormality of IL-1 not detectable by our methods.

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

“…In contrast to the earlier reports of marked microcephaly,1 6 head growth in the case reported here was proportionate to linear growth. Similarly, the occurrence of moderate learning difficulties is in contrast to the severe developmental delay reported in the case of Frydman et al 6…”

“…Our case has some of the characteristics reported in these earlier cases, including a prominent forehead and low set and malformed ears. Like the case reported by Frydman et al ,6 the birth weight of our case was unusually high. The older age of our patient, compared with those in earlier reports, provided an opportunity to document a more extensive medical history than has been recorded previously.…”

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

“…Only a few reports have been published concerning the proximal interstitial deletion in chromosome 2q [Lucas et al, 1987;Frydman et al, 1989;Davis et al, 1991;Baker et al, 2001;Peng et al, 2006]. Some of the reported manifestations are developmental delay, defects of the corpus callosum, microcephaly, prominence of the forehead, low-set and malformed ears, and cardiac anomalies.…”

A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

“…A few instances of proximal 2q deletions have been published, but previous cases (q12-q14,1 q12-q14.2,2q14-q213 4) have been associated with clinical features such as mental retardation, facial dysmorphism, heart defects, and renal and digital anomalies 3. We ascertained an interstitial deletion of chromosome 2 at q13-q14.1 (fig 1) in a clinically normal G6, P2, SAB3 woman aged 38.…”

“…In accordance with this, very few known genes lie within 2q13-q14. The inhibin beta chain precursor and interleukin-1 receptor antagonist protein precursor genes are located somewhere between 129 and 134 cM from the p telomere of chromosome 2,4 17 which roughly corresponds to the maximum extent of the deletion from 128 cM (YAC 791f4) to 135 cM (YAC 676d2).…”