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DiGeorge syndrome and partial monosomy 10p: case report and review. 1995

S Schuffenhauer, and H Seidel, and H Oechsler, and B Belohradsky, and U Bernsau, and J Murken, and T Meitinger
Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Ludwig-Maximilians-Universität München, Germany.

DiGeorge syndrome (DGS) is predominantly caused by partial monosomy 22q11, but a subset of patients with DGS show deletions of 10p or other chromosomal abnormalities. The authors describe a 20 months old girl with DGS and a monosomy 10p bringing the number of DGS patients with this chromosomal abnormality to nine. She has a monosomy 10p13-pter and a trisomy 10q26-qter due to a meiotic recombination of a maternal inversion (10) (p13q26). The proposita's phenotype demonstrates typical features of the del (10p) syndrome which include mental retardation, abnormally shaped skull, hypertelorism, low nasal bridge, micrognathia, dysmorphic low set ears, short neck, foot abnormalities, and cardiac defect. The diagnosis of DGS was made unequivocally within the first weeks of life because of the typical features-cardiac defect, hypoplastic thymus, T-cell defect, hypocalcemia, and hypoparathyroidism. The common DGS mutation-microdeletion 22q11-was excluded by FISH analysis, and the breakpoints on chromosome 10 were mapped between D10S189 and D10S191 on the short arm and proximal to D10S25 on the long arm.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002879 Chromosomes, Human, Pair 10 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 10
D004062 DiGeorge Syndrome Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies. Velocardiofacial Syndrome,22q11.2 Deletion Syndrome,22q11.2DS,Autosomal Dominant Opitz G-Bbb Syndrome,Catch22,Conotruncal Anomaly Face Syndrome,Conotruncal Anomaly Face Syndrome (CTAF),Deletion 22q11.2 Syndrome,DiGeorge Anomaly,DiGeorge Sequence,Familial Third and Fourth Pharyngeal Pouch Syndrome,Hypoplasia of Thymus and Parathyroids,Pharyngeal Pouch Syndrome,Sedlackova Syndrome,Shprintzen Syndrome,Shprintzen VCF Syndrome,Third and Fourth Pharyngeal Pouch Syndrome,Thymic Aplasia Syndrome,VCF Syndrome,Velo-Cardio-Facial Syndrome,Autosomal Dominant Opitz G Bbb Syndrome,Deletion Syndrome, 22q11.2,Syndrome, DiGeorge,Syndrome, Sedlackova,Syndrome, Shprintzen,Syndrome, VCF,Syndrome, Velo-Cardio-Facial,Syndrome, Velocardiofacial,Velo Cardio Facial Syndrome
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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