ABSTRACT
We report a boy with a trichorhinophalangeal syndrome (TRP syndrome), severe mental retardation, and transient megacephaly, whose karyotype showed complex, apparently balanced, translocations with breakpoints in bands 3q13, 8p22, 8q13, 11p12, and 11q21. The fact that cases presenting with phenotypes corresponding to the TRP II syndrome and deletions of the long arm of chromosome 8 have been recently reported prompted us to report this case to help in the clarification of the possible relation between 8q chromosomal mutation and the aetiology of TRP syndromes.
Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, 1-3 , Chromosomes, Human, 21-22 and Y , Chromosomes, Human, 6-12 and X , Intellectual Disability/genetics , Nose/abnormalities , Translocation, Genetic , Abnormalities, Multiple/genetics , Chromosome Disorders , Humans , Karyotyping , Male , SyndromeABSTRACT
Prenatal diagnosis was performed in a woman whose previous pregnancy resulted in a girl with probable Down syndrome who died soon after delivery. The mother was found to be a carrier of a reciprocal balanced translocation between chromosomes 21 and 22, and the fetus was found to have an unbalanced translocation involving chromosomes 21 and 22: 46,XX, -22, +t(21;22)(q22;q11)(21 pter leads to 21q22::22q11 leads to 22qter). Despite partial monosomy for the proximal segment of 22 and trisomy for proximal 21, the fetus did not have gross external abnormalities, but several internal malformations were found. To our knowledge, this is the first time that this unbalanced karyotype has been described.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, 21-22 and Y , Down Syndrome/genetics , Female , Humans , Infant, Newborn , Karyotyping , Male , Phenotype , Pregnancy , Prenatal Diagnosis , Translocation, GeneticABSTRACT
A female infant with Pfeiffer syndrome (acrocephalosyndactyly V) is presented. Her mother has no limb malformations, but has craniofacial features with strongly suggest that she is also affected, although more mildly. This family indicates that wide intrafamilial variation of Pfeiffer syndrome is possible and suggests that without detailed investigation mildly affected subjects can remain undiagnosed, which may lead to erroneous genetic counselling.
Subject(s)
Acrocephalosyndactylia/genetics , Acrocephalosyndactylia/diagnosis , Adult , Child, Preschool , Female , Genetic Counseling , Genetic Variation , Humans , Male , Pedigree , PhenotypeABSTRACT
An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance.
