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 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.
Zumel
R M
RM
Sección de Genética Médica, Hospital La Paz, Madrid, España.
Darnaude
M T
MT
Delicado
A
A
Diaz de Bustamante
A
A
de Torres
M L
ML
López-Pájares
I
I
D000015:Abnormalities, Multiple / Q000235:genetics*; D000361:Agammaglobulinemia / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D017098:IgA Deficiency; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome