[Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].

[22q11.2 deletion syndrome]

To carry out genetic analysis for two patients affected with congenital heart disease , developmental delay with or without cleft palate .Cytogenetic and molecular genetic methods including karyotyping , fluorescence in situ hybridization (FISH ), multiplex ligation-dependent probe amplification (MLPA ) and single nucleotide polymorphisms array (SNP-array ) were employed to detect potential mutations . For parents of both patients , MLPA was used to analyze whether they were carrier of the deletion .For neither patient , no abnormality was detected upon karyotype analysis . However , FISH analysis has indicated the presence of 22 q 11 .2 deletion . SNP-array analysis has confirmed that both patients have carried a 2 .5 Mb deletion in the 22 q 11 .2 region . MLPA analysis suggested none of the parents has carried the same deletion .Although the phenotypes of our patients were not identical , they were both diagnosed as 22 q 11 .2 deletion syndrome by multiple methods . The deletions in both cases were de novo in nature . Precise delineation of the genotype can facilitate better understanding of the patients ' phenotype .

Diseases
Validation

Diseases presenting "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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