The dup(3q) syndrome: Report of eight cases and review of the literature

Abstract

Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, highly arched or cleft plate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizable entity.

Application of personal computer to an analysis of smallde novo chromosomal insertion: A case ofde novo 3q2 trisomy with ins(8;3)

“…The main features include abnormal configurations of the head, brain malformations and/or seizures, hypertrichosis, hypertelorism, ocular anomalies, nose with abnormal bridge and anteverted nostrils, long philtrum, maxillary prognathism, downturned corners of the mouth, high-arched palate or cleft palate, micrognathia, malformed auricles, short and/or webbed neck, chest deformities, clinodactyly and congenital heart malformations (Steinbach et al, 1981). Most of these findings were observed in the present case.…”

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3

“…Clues to subchromosomal location have, however, been suggested from associated chromosomal abnormalities. A variety of abnormalities have been reported (for a review, see Kousseff et al 1994 ) but much attention has been focused on distal 3q as a result of (1) phenotypic overlap between the duplication 3q syndrome and mild CdLS ( Steinbach et al 1981 ;Wilson et al 1985 ) and (2) the identification of a balanced de novo translocation t(3;17)(q26.3;q23.1) in a patient with classical CdLS, some time after the original reports of phenotypic similarity between mild CdLS and the duplication 3q syndrome ( Ireland et al 1991 ). The significance of the 3q26.3 breakpoint appeared to be enhanced when the 3q26.3-q27 interval was suggested as the critical region for the dup 3q syndrome ( Aqua et al 1995 ;Ireland et al 1995 ;Rizzu et al 1997 ); individuals trisomic for regions immediately proximal or distal to this region were reported not to resemble CdLS ( Rizzu et al 1997 ;Lopez-Rangel et al 1993 ).…”

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

“…perceived phenotypic overlap between duplication 3q syndrome and mild CdLS 6,7 . The 3q breakpoint disrupts a large gene undergoing unusual alternative splicing, but we found no additional mutations specific to any individuals with CdLS 3 .…”