Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.

doi:10.1002/(SICI)1096-8628(19961202)66:1<104::AID-AJMG28>3.0.CO;2-V

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Article

Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.

American journal of medical genetics - 2 Dec 1996

Lindeman-Kusse M C, Van Haeringen A, Hoorweg-Nijman J J, Brunner H G

Abstract excerpt

We describe 2 patients with a combination of findings strikingly similar to those described by Pitt et al. [1984], consisting of severe mental retardation, pre- and postnatal growth retardation, history of seizures, microcephaly, ocular proptosis, mid-face hypoplasia, short and flat philtrum, and...

Topics

Abnormalities, Multiple
Child
Child, Preschool
Chromosomes, Human, Pair 4
Face
Female
Gene Deletion
Growth Disorders
Humans
Intellectual Disability
Male
Phenotype
Syndrome

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