Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation

Abstract

Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal folds. With age, his hypotonia has improved. The parents have normal chromosomes; the mother has a 9qh+ variant. The second patient, a girl, presented at birth with multiple congenital anomalies including cleft palate, epicanthal folds, anteverted nostrils, horseshoe kidneys and club feet. At 4 years of age, she was small and severely retarded. The normal parents and the normal sister showed no chromosomal abnormalities. Gene mapping studies in both patients failed to define a specific gene locus to the deleted chromosome regions. Including these two patients, there appear to be only three reported cases of patients with 5q deletion. A comparative description of the third patient is included in this report. There are some clinical similarities but these are inadequate to identify a clinical syndrome. This perhaps is explained by some quantitative and qualitative differences in the deletions.

Interstitial de novo deletion of the long arm of chromosome 5: Mapping of 5q bands associated with particular malformations

“…4). Pescia et al (1978), Stoll et al (1980;q13 -+q15), male patient of Silengo et al (1981 ;q13 +q15), and our case. The malformation syndrome is not severe although very deep hypotonia and myasthenia, abnormal asymmetric skull with brachycephaly and microcephaly, frontal bossing, slight dysmorphic face with flat nose, broad nasal bridge, low-set and malformed ears, narrow palpebral fissures, hypertelorism, strabismus, epicanthus, micrognathia, valgus, flat feet, abnormal dermatoglyphics (frequent whorls on the fingertips, t" triradii, single crease on the 5th finger, simian creases) and severe to moderate mental retardation were observed.…”

“…Monosorny of bands q23,q31 was an additional finding in the case of Felding & Kristoffersson (1980) and very probable in the female patient of Centerwall et al (1978) and Silengo et al (1981), with an interstitial deletion q154q31. It appears to induce, in addition, cleft palate and renal (hydronephrosis), eye and cardiac anomalies (persistent ductus arteriosus, ventricular hypertrophy, coarctation of the aorta, and atrial septa1 defect).…”

“…To our knowledge, cases of partial monosomy 5q -showing interstitial deletions identified by chromosome banding, have been published only by Centerwall et al (1978), Erdtmann et al (1979, Felding & Kristoffersson (1980, Pescia et al (1978), Silengo et al (1981) and Stoll et al (1980). Lindenbaum & Butler (1971) reported a boy with a deleted chromosome No.…”

“…A deletion of the long arm of chromosome 5 associated with multiple anomalies was first described by Lindenbaum & Butler (1971). Since then, six other cases with the 5qabnormality have been described in patients with severe mental retardation and phenotypic peculiarities (Centerwall et al 1978, Erdtmann et al 1975, Felding & Kristoffersson 1980, Pescia et al 1978, Silengo et al 1981, Stoll et al 1980. According to the Repository of Chromosomal Variants and Anomalies in Man, Kucerova & Polivkova found three cases with del(5)(q15 ;q23), (q21 ;q23), and (q15 ;q22), and Palmer et al (1978) also found a case with 46,XY,de1(5)(q21 ;q23), all unpublished.…”

Interstitial deletion of band q12 of chromosome 5

“…One was identified by autoradiographic studies as a chromosome 5 deletion (Lindenbaum & Butler 1971) and six were identified by G-banding techniques. These six cases present a de novo interstitial deletion with the breakpoints located in region 5q13-5q31 (Erdtmann et al 1975, Pescia et al 1978, Silengo et al 1981, Harprecht-Beato et al 1983).…”