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 "birth weight" symptom

classical phenylketonuria

congenital diaphragmatic hernia

congenital toxoplasmosis

cutaneous mastocytosis

dracunculiasis

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

lamellar ichthyosis

phenylketonuria

wolf-hirschhorn syndrome

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