A 13‐YEAR‐OLD GIRL WITH WOLF'S SYNDROME AND KARYOTYPE 46,XX,del (4) (pter→p 15::p 12→qter),9qh + Increased risk of structural chromosome abnormalities in the progeny of mothers with 9qh+

Nielsen, Johannes; Fischer, O; Rasmussen, Kirsten; Sillesen, Ingelise; Bernsen, A. H.; Saldaña-Garcia, P

doi:10.1111/j.1365-2788.1977.tb00031.x

Cited by 4 publications

(1 citation statement)

References 7 publications

(2 reference statements)

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“…A chromosomal variant in the mother of our first proband is of interest. The 9qh+ variant, found with variable incidence in normal individuals, has been linked not only to a higher incidence of nondisjunctional accidents, but also to an increased risk of structural chromosome abnormalities in the offspring Sillesen 1975 andNielsen et al 1977).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1981

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 1981

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Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

et al. 1981

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Clinical and cytogenetic studies are reported on 13 patients with Wolf-Hirschhorn syndrome. The oldest of the living twelve probands is 24 years of age. Three of these patients had a translocation involving the short arm of chromosome 4, and in one of these the anomalous chromosome was inherited from the father. Another three patients were believed, on the basis of GTG-staining, to have a translocation although the origin of the translocated chromatin could not be identified. In the remaining seven patients the anomalous chromosome appeared to be a simple deletion, although in two cases a translocation could not be ruled out. Cytogenetic studies in these patients suggest that the critical deletion involved in Wolf-Hirschhorn syndrome is within 4p16.

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The 4p- syndrome—An autopsy study

Fernandes¹,

Gardner²,

Bédard³

1980

Human Pathology

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A 13‐YEAR‐OLD GIRL WITH WOLF'S SYNDROME AND KARYOTYPE 46,XX,del (4) (pter→p 15::p 12→qter),9qh + Increased risk of structural chromosome abnormalities in the progeny of mothers with 9qh+

Cited by 4 publications

References 7 publications

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

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

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

The 4p- syndrome—An autopsy study

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