A case report of 22q11 deletion syndrome confirmed by array-CGH method
A family with 2 boys, 9 and 1.5 years old was referred to Tohid genetic counseling center, Iran, Isfahan in 2011 for next pregnancy. The affected individual was a 1.5 years-old male child, born of a first-cousin consanguineous marriage. The boy was born at term after a normal pregnancy with a birth weight of 2790 gm, length of 52 cm and head circumference of 34.5 cm, which at present are 10 kg, 70 cm and 44.5 cm, respectively. He was the second child of the family and his 9 years old brother was normal. He had several clinical features including suborbital congestion, narrow palpebral fissures, small low set ears, prominent nasal bridge, brachycephaly, soft cleft palate and uvula cleft, closed PFO, right inguinal hernia, mild developmental delay and febrile seizures. He had mild developmental delay but no hyperactivity was seen, however, regarding to his age, it is a little soon to judge about his IQ and hyperactivity.\nMild atrophic change in tempo frontal and narrowing of corpus callosum, mostly in anterior was seen in C.T scan. Hearing test, thyroid test and blood calcium was normal. PTH test was 60 ng/ml (normal range is 10-65 ng/ml), that was extreme limit of normal and is better to be followed up in future.\nCombination of these phenotypes made chromosome 22q11DS syndrome as a possible diagnosis. For this reason, the genomic DNA was examined by human Genome Microarray kit 105A (Agilent). This is an array with more than 100000 probes covering the whole human genome with an average theoretical spacing of 15 Kb. After hybridization, the array was scanned with the Agilent Microarray Scanner (G2565BA), the results were analyzed using Feature Extraction Software v.9.5 and Genomic Workbench 5.0 Microarray CGH; result revealed a chromosomal imbalances in this patient including a 2.6 Mb submicroscopic deletion in 22q11.21 concordance with 22q11DS.