Table 1.

Genetic tests and clinical findings for patients with 22q11.2PDS and 22q11.2DDS

	22q11.2 proximal deletion syndrome	22q11.2 distal deletion syndrome
Age	30 years	49 years
Sex	F	M
Genetic tests
Karyotyping	46,XX	46,XY
MLPA	Deletion in LCR A–D	Deletion in LCR D–F
aCGH	arr 22q11.21 (18,648,866 – 21,465,659)×1 Deletion of 2.8 Mb in 22q11.21 region	Deletion of 1.8 Mb in 22q11.21q11.23 region
Clinical data
Neurodevelopment	Speech delay	Global developmental delay, IQ 72
Heart defects	Atrial septal defect	None
Skeletal defects	Klippel Feil disorder, short stature	None
Orofacial defects	Submucous cleft palate	None
Infections	Chronic supurative otitis media, chronic sinusitis, keratitis, several episodes of pneumonia, pulmonary hypertension secondary to lung fibrosis, recurrent urinary tract infections	Ocular HZV infection, recurrent HZV infection in left hemibody (at least 11 episodes)
Ear	Bilateral conductive hearing loss	Left sensorineural hearing loss
CNS	Symptomatic focal epilepsy	Arachnoid cyst
Endocrine	Hypothyroidism, Hypogonadism	Hypothyroidism
Others	Hypersplenism that required surgical spleen remotion, Von Willebrand type II disease, granulomatous liver disease, epilepsy	Postherpetic neuropathy, IV–VI cranial nerve paralysis

Results of genetic tests and clinical findings were obtained from medical records. aCGH, array comparative genomic hybridization; CNS, central nervous system; HZV, herpes zoster virus; LCR, low copy repeats; MLPA, multiplex ligation-dependent probe amplification.