Trisomy 12p and monosomy 4p: phenotype-genotype correlation.

[wolf-hirschhorn syndrome]

4 p Monosomy and 12 p trisomy have been discussed and redefined along with recently reviewed chromosomal syndromes . 12 p Trisomy syndrome is characterized by normal or increased birth weight , developmental delay with early hypotonia , psychomotor delay , and typical facial appearance . Most likely , the observed phenotypic variability depends on the type and extent of the associated partial monosomy . Partial deletions of the short arm of one chromosome 4 cause the Wolf-Hirschhorn syndrome (WHS ). Affected patients present Greek helmet face , growth and mental retardation , hypotonia , and seizures . The combination of these characteristics constitutes the phenotypic core of WHS . We present a clinical and molecular cytogenetic characterization of a 4 -year old mentally retarded girl with macrosomy , facial dysmorphisms , and epilepsy , in whom an unbalanced t (4 ;12 )(p 16 .3 ;p 13 .3 ) translocation was detected , giving rise to partial 4 p monosomy and partial 12 p trisomy . Because the patient shows most of the phenotypic characteristics of 12 p trisomy , this case could contribute to a better definition of the duplicate critical region that determines the phenotype of the 12 p trisomy syndrome .

Diseases
Validation

Diseases presenting "psychomotor delay" symptom

canavan disease

neonatal adrenoleukodystrophy

wolf-hirschhorn syndrome

This symptom has already been validated