Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
4p Monosomy and 12p trisomy have been discussed and redefined along with recently reviewed chromosomal syndromes. 12p 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)(p16.3;p13.3) translocation was detected, giving rise to partial 4p monosomy and partial 12p trisomy. Because the patient shows most of the phenotypic characteristics of 12p trisomy, this case could contribute to a better definition of the duplicate critical region that determines the phenotype of the 12p trisomy syndrome.
S.C. Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy.
Daniela Gambel
DG
Benussi
Paola
P
Costa
Marcella
M
Zollino
Marina
M
Murdolo
Vincenzo
V
Petix
Marco
M
Carrozzi
Vanna
V
Pecile
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics; D019066:Facies; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D015335:Molecular Probes; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy / Q000235:genetics*; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*
D015335:Molecular Probes