Congenital heart disease with del(15q) mosaicism

Abstract

A male infant with mosaic interstitial deletion of 15q is described. He had some dys‐morphic features and complicated congenital right side heart disease.

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q

“…Proximal 15q deletions without PWS or AS phenotypes (Magenis et al 1987, Kaplan et al 1987 show considerable clinical and cytogenetic variability, but most show a del(l5q) which is large enough to be detectable by standard cytogenetic techniques, and physical anomalies usually include some features of PWS or AS. Two reported cases (Herva & Vuorinen 1980, Galan et al 1991 show interstitial deletions comparable in size and overlapping with the present 154 case. Clinical similarities among the three cases (Table I ) include apparent complications during pregnancy, small size for gestational age including microcephaly, multiple facial anomalies with broad nasal bridge and anteverted nostrils, low-set abnormal ears, and congenital heart anomalies.…”

“…The majority of these cases have additional malformations associated with easily visible deletions of proximal 15. Two cases required high resolution banding for detection (Herva & Vuorinen 1980, Galan et al 1991. We report a third case, detected by high resolution banding, with loss of at least part of 15q14, all of 15q13 and possibly part of 15q12.…”

“…Interstitial deletions of chromosome 15q12 associated with Prader-Willi syndrome (PWS) (Ledbetter et al 1982) and more recently with Angelman syndrome (AS) (Magenis et al 1987) are now widely recognized. Twenty-five patients with proximal 15q deletions but without typical PWS or AS phenotype have also been reported (Herva & Vuorinen 1980, Duckett & Roberts 1981, Fryns et al 1982, Pauli et al 1983, Schwartz et al 1985, Magenis et a]. 1987, Yip et al 1987, Formiga et al 1988, Galan et al 1991.…”

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

“…37 -44 Nevertheless, some translocations of this type have been shown to associate clinical signs of PWS, in addition to other findings not usually seen in this syndrome. This 'expanded' PWS phenotype may include cardiac, renal, and neurological abnormalities; bifida uvula and auditory dysfunction, 42 has also been reported in two cases of large interstitial deletion of 15q, 45,46 indicating that it is linked to the loss of sequences from chr 15.…”

Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot

“…Of interest is the association of 15q14 microdeletion and TOF on prenatal ultrasound in the present case. Congenital heart defects associated with the cases with the 15q14 microdeletion have been well described: Chen et al [14] reported VSD associated with del(15)(q14) (submicroscopic, 5.6 Mb); Crowley et al [15] reported VSD associated with del(15)(q14) (submicroscopic, 123 kb); Johansson et al [17] reported VSD in three of nine cases with del(15)(q14) (submicroscopic, 0.6e4.8 Mb); Brunetti-Pierri et al [13] reported congenital heart defects associated with del(15)(q14) (submicroscopic, 4.2 Mb) and del(15)(q13eq14) (submicroscopic, 8.9 Mb), respectively, in two patients; Erdogan et al [12] reported atrial septal defect (ASD) associated with del(15)(q14) (submicroscopic, 5.3 Mb); Galan et al [8] reported pulmonary valve stenosis associated with del(15)(q12eq14); Tonk et al [9] reported VSD, patent ductus arteriosus (PDA), and ischemic cardiomyopathy associated with del(15)(q12eq14); Autio et al [7] reported ASD associated with del(15)(q13eq15); Herva and Vuorinen [3] reported VSD, hypoplastic pulmonary artery, and atretic tricuspid valve associated with del(15)(q12eq14); Pauli et al [5] reported VSD associated with del(15)(pter-q15) and del(11)(q25-qter); Windpassinger et al [10] reported persistent foramen ovale and PDA associated with del(15)(pter-q14) and del(3)(qter); Duckett and Roberts [4] reported VSD, ASD, PDA, and transposition of great vessels associated with del(15)(pter-q14 or q15) and trisomy 13 (pter-q32 or q33); Schwartz et al [6] reported coarctation of the aorta and PDA associated with del(15)(pter-q14) and del(22)(pterq13.2); and Matsumura et al [11] reported PDA associated with del(15)(pter-q14) and trisomy 22q. Matsson et al [18] analyzed two large Swedish families segregating autosomal dominant secundum ASD5 and identified heterozygosity for a mutation of M123V in the 20 affected individuals.…”