Literature DB >> 7143392

Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.

P E Podruch, F S Yen, N D Dinno, B Weisskopf.   

Abstract

A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.

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Year:  1982        PMID: 7143392      PMCID: PMC1048926          DOI: 10.1136/jmg.19.5.377

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  10 in total

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Journal:  Lancet       Date:  1973-03-17       Impact factor: 79.321

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Journal:  Am J Dis Child       Date:  1971-11
  10 in total
  5 in total

1.  FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY.

Authors:  S Kirsch; B Weiss; M De Rosa; T Ogata; G Lombardi; G A Rappold
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

Review 2.  Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.

Authors:  G C Beverstock; J D MacFarlane; H Veenema; H Hoekman; P J Goodfellow
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

3.  Deletion mapping of stature determinants on the long arm of the Y chromosome.

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4.  Familial Sneddon's syndrome.

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5.  Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.

Authors:  Liliana Fernández-Hernández; María José Navarro-Cobos; Miguel Angel Alcántara-Ortigoza; Sandra Elena Ramos-Ángeles; Bertha Molina-Álvarez; Sinhué Díaz-Cuéllar; Bárbara Asch-Daich; Ariadna González-Del Angel
Journal:  Mol Cytogenet       Date:  2019-08-01       Impact factor: 2.009

  5 in total

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