Partial DiGeorge anomaly associated with 10p deletion.
We report a girl with partial DiGeorge anomaly associated with a distal chromosome 10p deletion. The initial manifestation was hypocalcemia convulsion at the age of 14 days. The patient was small for her gestational age and showed symptoms of poor feeding and inspiratory stridor. Facial dysmorphisms included a cupped ear, hypertelorism downslanted and short palpebral fissures frontal bossing, anteverted nostrils, a flat nasal bridge, and micrognathia. Developmental delay was also noted. Hypoplasia of the thymus was detected by ultrasound examination, but results of immunologic studies were all normal at 6 weeks of age. The echocardiogram, brain ultrasound, electroencephalogram, and magnetic resonance images of the brain were normal, but brainstem auditory evoked potentials showed bilateral sensorineural hearing loss. Chromosomal analysis showed 16, XX, del(10)(p12.3); the parents had normal karyotypes. After treatment with vitamin D, calcium gluconate, and magnesium sulfate, the patient's serum calcium and magnesium levels were within normal limits. She was discharged and received regular follow-up at our clinic for physical therapy and to ensure adequate supply of divalent cations. Complex partial seizure was noted at the age of 1 year and was controlled with carbamazepine. To our knowledge, this is the first Taiwanese reported to have partial DiGeorge anomaly associated with 10p deletion. We recommend that standard karyotyping should be performed in children suspected to have this anomaly.
Hsu
H L
HL
Department of Pediatrics, National Taiwan University Hospital, Taipei.
Hsiao
P H
PH
Hou
J W
JW
Tsai
W Y
WY
Wang
T R
TR
D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn