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Unbalanced translocation (3;5)(q26.1;p14): A clinical report
- Source :
- American Journal of Medical Genetics. 110:353-358
- Publication Year :
- 2002
- Publisher :
- Wiley, 2002.
-
Abstract
- A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p monosomy and partial 3q trisomy. The phenotype observed in this patient results from the combination of those described in the isolated dup(3q) and del(5p) syndromes. Some clinical features of this patient are shared by the Smith-Lemli-Opitz syndrome (SLOS), a well-known MCA/MR syndrome due to the deficiency of 7-dehydrocholesterol reductase (DHCR7). We review the previously reported cases of chromosomal anomalies with clinical features suggesting SLOS.
- Subjects :
- Male
congenital, hereditary, and neonatal diseases and abnormalities
Monosomy
medicine.medical_specialty
Pathology
Chromosomal translocation
Biology
Translocation, Genetic
Diagnosis, Differential
Fatal Outcome
Intellectual Disability
Internal medicine
Gene duplication
medicine
Humans
Abnormalities, Multiple
translocation (3,5)(q26.1,p14)
Genetics (clinical)
Infant
Karyotype
medicine.disease
Smith-Lemli-Opitz Syndrome
Endocrinology
Smith–Lemli–Opitz syndrome
Child, Preschool
Karyotyping
dup
Chromosomes, Human, Pair 5
Chromosomes, Human, Pair 3
Differential diagnosis
Trisomy
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 110
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....9dd0516f69c0830a150b56324beaf84d