Terminal deletion of chromosome 10q: Clinical features and literature review

Abstract

Key words chromosome 10q, deletion.

Inhibition of breast and brain cancer cell growth by BCCIPα, an evolutionarily conserved nuclear protein that interacts with BRCA2

“…It has also been reported that the deletion of this region is responsible for develop- The double-band pattern is not readily visible in the tissues in this illustration due to the compromised resolution of the pre-made membrane provided by DNA Technology. However, the same double-band pattern, as in (b), was observed with a lighter exposure (data not shown) in all the tissues mental retardation in children (Tanabe et al, 1999;Taysi et al, 1982;Waggoner et al, 1999).…”

Hydrops fetalis in an interstitial deletion of chromosome 10

“…Patients with interstitial deletions of the long arm of chromosome 10 share some features with patients having 10qter deletions, including hypertelorism and malformed ears [Costakos et al, 1998;Tanabe et al, 1999]. The dysmorphic features described in our patient at birth are not striking in the photograph, since this is a postmortem picture of the infant.…”

Partial monosomy 10q with partial trisomy 11q due to paternal balanced translocation

“…This patient had coarctation of the aorta, patent ductus arteriosus and ventricular septal defect. This patient did not have urogenital anomalies which are often seen in these syndromes 1,6,9 …”

“…In regard to the visceral anomalies, one‐third to half of the patients with partial monosomy 10q syndrome have congenital heart disease, such as ventricular septal defect, patent ductus arteriosus, or pulmonary stenosis, 1,7,9 and most of those with partial trisomy 11q also have congenital heart defects 8 . This patient had coarctation of the aorta, patent ductus arteriosus and ventricular septal defect.…”

“…Prenatal and postnatal growth retardation, developmental delay and hypotonia are findings common to partial monosomy 10q and partial trisomy 11q 1,6–8 . Main surface anomalies in parital monosomy 10q syndrome are microcephaly, beak like nose, low‐set malformed ears, down‐slanting short palpebral fissures, hypertelorism, strabismus, micrognathia, short neck, clinodactyly and syndactyly 1,7,9 . Those of partial trisomy of 11q syndrome are microcephaly, hypertelorism, downslanted palpebral fissure, short nose, long philtrum, micrognathia, retracted lower lip, low‐set ears, high‐arched palate and short neck 6,8 .…”