| Omphalocele and partial trisomy 1q syndrome. | |
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MedLine Citation:
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PMID: 535894 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral dimple, flexion contractures of the fingers, bifid thumb, Simian crease, and overriding toes. In addition, he had a large omphalocele not previously seen in trisomy 1q. Postmortem findings include underdeveloped cerebellum, a thymus with moderate depletion of thymocytes, a large PDA, ASD, small adrenal, and fatty change of the liver. The grandfather, father, and a male sibling have translocation t(1;21)(q25;q22). A family history of repeated spontaneous abortions is present. |
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Authors:
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H Chen; J J Gershanik; J B Mailhes; I D Sanusi |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Human genetics Volume: 53 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1979 |
Date Detail:
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Created Date: 1980-05-23 Completed Date: 1980-05-23 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 1-4 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Abortion, Habitual / genetics Adult Chromosomes, Human, 1-3* Chromosomes, Human, 21-22 and Y Female Hernia, Umbilical / genetics* Humans Infant, Newborn Male Pregnancy Syndrome Translocation, Genetic Trisomy* |
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