| Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis. | |
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MedLine Citation:
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PMID: 11320988 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Partial deletion of the long arm of one of the chromosomes 13 is an exceedingly rare condition. We report such a case in a 32-week fetus presenting with polyhydramnios, growth restriction and multiple structural defects including alobar holoprosencephaly, facial abnormalities, clubfoot, clinodactyly and thumb agenesis. Fetal blood sampling revealed a 46,XY, del(13)(q22 --> qter) abnormal male karyotype. Postmortem examination confirmed the prenatal findings and showed other manifestations of the syndrome. To our knowledge, this case represents the first in which the prenatal ultrasound detection of holoprosencephaly in association with distal limb abnormalities led to the prenatal diagnosis of the 13q- syndrome. |
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Authors:
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J Gutierrez; W Sepulveda; R Saez; E Carstens; J Sanchez |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology Volume: 17 ISSN: 0960-7692 ISO Abbreviation: Ultrasound Obstet Gynecol Publication Date: 2001 Feb |
Date Detail:
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Created Date: 2001-04-24 Completed Date: 2001-05-17 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9108340 Medline TA: Ultrasound Obstet Gynecol Country: England |
Other Details:
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Languages: eng Pagination: 166-8 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, San Jose Hospital, Santiago, Chile. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosome Deletion* Chromosomes, Human, Pair 13* Clubfoot / ultrasonography Female Fetal Death Holoprosencephaly / ultrasonography* Humans Polyhydramnios Pregnancy Thumb / abnormalities*, ultrasonography Ultrasonography, Prenatal* |
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