ABSTRACT
This study presents a family with a syndromic form of X-linked mental retardation in which four males in two generations present severe mental retardation, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Multipoint linkage analysis with 24 highly polymorphic markers indicated two possible candidate regions: Xp21.1-Xq21.3 (flanking markers DXS1214 and DXS990) and Xq23-Xq27.1 (flanking markers DXS8020 and DXS984). The two known loci for X-linked mental retardation and spastic paraplegia are excluded: proteolipid protein in Xp21 and L1 cell adhesion molecule in Xq28. Therefore, the syndrome in this family appears to represent a previously undescribed X-linked spastic paraplegia-mental retardation syndrome.
Subject(s)
Spastic Paraplegia, Hereditary/genetics , X Chromosome , Adolescent , Adult , Chromosome Mapping , Female , Genetic Linkage , Humans , Intellectual Disability/genetics , Male , Pedigree , Polymorphism, Genetic , SyndromeABSTRACT
We present an adult female patient with a so far unreported syndrome of severe short stature, severe mental retardation, facial dysmorphism and hyperphalangy of the index fingers. Parental consanguinity suggests an autosomal recessive inheritance.
Subject(s)
Facial Bones/abnormalities , Fingers/abnormalities , Hand Deformities, Congenital/pathology , Intellectual Disability/pathology , Adult , Body Height , Facies , Female , Genes, Recessive , Hand Deformities, Congenital/genetics , Humans , Intellectual Disability/genetics , Karyotyping , PhenotypeABSTRACT
We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a "de novo" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 1 , Trisomy , Adult , Chromosome Banding , Humans , Intellectual Disability , Male , SyndactylyABSTRACT
We present a patient with profound mental retardation, epilepsy, facial dysmorphism and multiple skin hyper- and depigmentation areas. Karyotype in white blood cells was normal female, whereas in cultured skin fibroblasts originating from a depigmentated area, mosaic 48,XX,+18,+20 was found. Molecular analyses using polymorphic microsatellites showed a different origin of both additional chromosomes: maternal for the chromosome 20, paternal for chromosome 18. This, together with a mosaic state is consistent with a double postzygotic error in chromosome segregation possibly occurring in a single cell division.
Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, Pair 18 , Chromosomes, Human, Pair 20 , Mosaicism , Pigmentation Disorders/genetics , Trisomy , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Adult , Aneuploidy , Chromosome Disorders , Female , Humans , Pigmentation Disorders/diagnosisABSTRACT
We report the prenatal diagnosis of a karyotype 46,XY,rec(6)dup p, inv(6) (p23q27) mat detected by fluorescence in situ hybridization using chromosome 6pter and 6qter specific DNA markers. This partial duplication-deletion (6p12-->pter; 6q27-->qter) emanated from a balanced pericentric inversion 46,XX inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with the same unbalanced anomaly are described. This report illustrates the sensitivity and specificity of fluorescence in situ hybridization (FISH) and its benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal rearrangements.
Subject(s)
Chromosome Inversion , Chromosomes, Human, Pair 6 , Monosomy , Prenatal Diagnosis , Trisomy , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Abortion, Therapeutic , Chromosome Aberrations/diagnosis , Chromosome Aberrations/genetics , Chromosome Disorders , Facial Bones/abnormalities , Female , Fetal Diseases/diagnosis , Fetal Diseases/genetics , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Intellectual Disability/genetics , Kidney/abnormalities , Male , Mosaicism , Pedigree , Pregnancy , Pregnancy Trimester, First , Pregnancy Trimester, Second , Pregnancy in Diabetics , Skull/abnormalitiesABSTRACT
An extensive search for a genetic pattern in Klippel-Trenaunay syndrome (KTS) revealed two other cases of KTS in the families of two of the 86 patients with this vascular syndrome who were questioned. Patients with KTS also had family members with other malformations: e.g. hemihypertrophy in one family, and a prevalence of 7/400 of naevi flammei in first-degree relatives of KTS patients was observed. We suggest that KTS can be inherited in a multifactorial way and a range of vascular malformations can be observed in the family members of patients with this syndrome.
Subject(s)
Klippel-Trenaunay-Weber Syndrome/genetics , Adolescent , Adult , Aged , Causality , Child , Child, Preschool , Extremities/pathology , Family , Female , Humans , Hypertrophy , Male , Middle Aged , Nevus, Pigmented/genetics , Pedigree , Skin Neoplasms/genetics , Varicose Veins/geneticsABSTRACT
A thorough study of the genetic aspects of Klippel-Trenaunay syndrome revealed two further cases of K.T. in the family 2 of the 86 patients questioned. In addition, 7/4,000 first degree relatives had flat angiomas. The authors suggest that these individuals are in fact "mini-Klippels". "Formes frustes" of the syndrome can be explained by variable expression of the genetic defect. In all, 7/86 families were of particular genetic interest: - two families with two individuals suffering from KTS; - five families with several individuals with flat angiomas on one or more limbs. All these findings suggest multifactorial inheritance of the syndrome. It is not possible to calculate the precise probability of inheritance of the syndrome on the basis of our figures but we consider it to be of the order of 1 to 2%.
