Multiple skeletal anomalies in the ?13q-? syndrome

Chemke, Juan; Fishel, Efraim; Zalish, Miriam; Sagiv, Mooly

doi:10.1007/bf00496923

Cited by 10 publications

(5 citation statements)

References 7 publications

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“…The most common clinical features are growth deficiency, mental retardation, abnormal face features, webbing of the neck, limb and digital abnormalities, cardiac defects, eye abnormalities, intestinal atresia, and lumbar agenesis. There are widely variable manifesta-tions in patients with 13q deletion that depend largely on the segments that are deleted from the chromosome [3][4][5].…”

Section: Discussionmentioning

confidence: 99%

Genetic Haploinsufficiency as a Phenotypic Determinant of a Deletion 13q Syndrome

Kasyan

Benirschke

2005

Pediatr Dev Pathol

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Two cases of newborns with deletion 13q syndrome were identified and studied using electron microscopy and histologic, immunohistochemical, and special stained sections. We reviewed the published literature on genes that are haploinsufficient in the deletion 13q syndrome. The complexity of the deletion 13q syndrome phenotype is due at least in part to the haploinsufficiency of dosage-sensitive genes. Future studies need to be performed to identify their precise role in the cellular function and the development of the deletion 13q syndrome phenotype.

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Section: Discussionmentioning

confidence: 99%

Genetic Haploinsufficiency as a Phenotypic Determinant of a Deletion 13q Syndrome

Kasyan

Benirschke

2005

Pediatr Dev Pathol

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“…Limb deficiencies are known to occur in the listed syndromes. Two new reports of thumb aplasia in ring D and D deletion syndrome appeared (Chemke et al, 1978;Molina et al, 1982). Meinecke and Koske-Westphal (1980) described a 37 year-old-male with ring chromosome 15.…”

mentioning

confidence: 99%

The Genetics of Hand Malformations: Updated*

Temtamy¹

1985

Congenital Anomalies

129

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The main values of our knowledge of the genetics of birth defects are proper diagnosis and counseling. A classification of hand malformations on anatomic and genetic grounds was proposed by Temtamy (1966), Temtamy and McKusick (1969, 1978): The ten main categories are (1) Absence, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly, (5) Symphalangism, (6) Arachnodactyly, (7) Macrodactyly, (8) Carpal/Tarsal synostosis, (9) Congenital ring constrictions, and (10) Contractures. The hand malformation is either isolated or associated with other organ malformation as a part of syndromes. In the monograph by Temtamy and McKusick (1978), numerous new syndromes were identified, some of which were based on single or few observations. The paper summerizes the pertinent findings in a computerized literature survey of absence or deficiency malformation as part of synderomes reported between 1977 and 1983. Analysis of the literature confirmed the identity of previously reported syndromes and added “new” entities. The originally proposed classification of hand malformations proved to be useful and allowed for easy sorting out of the recent literature and for indentification of new syndromes.

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“…They presented a case with 14 thoracic segments with complete ribs and multiple coronal cleft vertebrae. Rib and vertebral anomalies have similarly been reported in 13q deletion syndrome (Chemke et al, 1978), 4p trisomy, 7q trisomy, 8 trisomy, and other chromosomal aberrations (Lewandowski and Yunis, 1975).…”

Section: Cytogenetic Studiesmentioning

confidence: 66%