ABSTRACT
The patient described represents the first reported case of partial deletion 10q. The patient is compared to the partial trisomy 10q syndrome.
Subject(s)
Asthma/genetics , Chromosome Deletion , Chromosomes, Human, 6-12 and X , Intellectual Disability/genetics , Child, Preschool , Dermatoglyphics , Female , Foot Deformities, Congenital , Hair/abnormalities , Hand Deformities, Congenital , Humans , Microcephaly/genetics , PhenotypeABSTRACT
Severe mental retardation, growth failure, microcephaly, micrognathia, cleft palate, hooked nose, low-set thin flabby ears, pronounced elongated philtrum, and generalized decreased subcutaneous tissue characterized a 5 year 9 month old female with karyotype 47,XX,+15,del(15)(q15).
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, 13-15 , Trisomy , Child, Preschool , Female , Humans , Intellectual Disability/geneticsABSTRACT
A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.
Subject(s)
Chromosomes, Human, 13-15 , Trisomy , Child, Preschool , Female , HumansABSTRACT
A 3-year-old Latin female is reported with a terminal deletion of the No. 1 chromosome, karyotype formula 46, XX, del(1) (q43). Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity. Neurologic - moderate motor and mental retardation; high-pitched, shrill cry; absent pincer grasp at 3 years; and grand mal seizures documented from 9 months of age.
