Clinical variability of tetrasomy 12p.

doi:10.1111/j.1399-0004.1997.tb02429.x

Back to search

Article

Clinical variability of tetrasomy 12p.

Clinical genetics - 1 Feb 1997

Schaefer G B, Jochar A, Muneer R, Sanger W G

Abstract excerpt

We describe five patients with tetrasomy 12p (one previously reported). These patients exhibit a very wide range of phenotypic features from that of classic Pallister-Killian syndrome to only mild learning disabilities with pigmentary skin changes. As such, these cases highlight the fact that tet...

Topics

Abnormalities, Multiple
Adult
Aneuploidy
Child
Child, Preschool
Chromosomes, Human, Pair 12
Cleft Palate
Developmental Disabilities
Face
Female
Fibroblasts
Hearing Disorders
Humans
Infant
Infant, Newborn
Learning Disabilities
Male
Mosaicism

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.