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Table 2 Comparison of the common clinical features of the rec(4)[7, 10–16, 19] , dup(4p)[20, 21] and del(4q)[22] syndromes

From: Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

 

rec(4) syndrome

dup(4p) syndrome

del(4q) syndrome

Growth retardation

+

+

-

Microcephaly

+

+

-

Abnormal ears

+

+

-

Pointed Chin

+

+

-

Broad chest

+

+

-

Short neck

+

+

-

Thin upper lip

+

+

-

Broad nose

+

+

-

Cardiopathy

+

-

-

Urogenital abnormality

+

-

+

  1. +, present; -, absent; nr, not reported.
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Molecular Cytogenetics

ISSN: 1755-8166