The 18p- syndrome. Report of five cases

Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this syndrome: microcephaly, round face, hypertelorism, broad-based nose, "carp-mouth", microrethrognathia, pterygium colli, dysplastic...

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Bibliographic Details
Published in:	Annales de génétique Vol. 32; no. 3; p. 160
Main Authors:	Zumel, R M, Darnaude, M T, Delicado, A, Diaz de Bustamante, A, de Torres, M L, López-Pájares, I
Format:	Journal Article
Language:	English
Published:	Netherlands 1989
Subjects:	Abnormalities, Multiple - genetics Agammaglobulinemia - genetics Child Child, Preschool Chromosome Aberrations - genetics Chromosome Aberrations - pathology Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 18 - ultrastructure Face - abnormalities Female Growth Disorders - genetics Humans IgA Deficiency Infant Infant, Newborn Intellectual Disability - genetics Male Pedigree Syndrome
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Summary:	Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this syndrome: microcephaly, round face, hypertelorism, broad-based nose, "carp-mouth", microrethrognathia, pterygium colli, dysplastic and low set ears, clinodactily, failure to grow, muscular hypotony and mental retardation. Different hypotheses are discussed in order to explain the variable phenotypical expression of the 18 p-syndrome.
ISSN:	0003-3995