| Agnathia-holoprosencephaly: a new recessive syndrome? | |
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MedLine Citation:
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PMID: 8281280 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The association between agnathia and holoprosencephaly is well documented (Pauli et al., 1981). Pauli et al. described two female sibs with agnathia and holoprosencephaly who were subsequently shown to carry an unbalanced 46,XX, der 18,t(6;18)(pter p24.1) karyotype (Pauli et al., 1983; Krassikoff and Sekhon, 1989). All other cases have been sporadic (Cohen, 1989). We present a recurrence of agnathia-holoprosencephaly in an unrelated European couple and postulate that this association may represent an autosomal recessive syndrome. |
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Authors:
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M E Porteous; C Wright; D Smith; J Burn |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 2 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1994-02-17 Completed Date: 1994-02-17 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 161-4 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, University of Newcastle-upon-Tyne, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Abortion, Therapeutic Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 6 Female Fetal Death Genes, Recessive* Holoprosencephaly / genetics* Humans Mandible / abnormalities* Pregnancy Syndrome Translocation, Genetic |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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