Objective: To present prenatal diagnosis and array comparative genomic hybridization (aCGH) characterization of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) presenting with fetal ascites and ventriculomegaly in the second [pubmed.ncbi.nlm.nih.gov]

A number of particular facial features may be present in some people with 22q11.2 deletion syndrome. [mayoclinic.org]

• Heart Murmur

  Signs and symptoms may include some combination of the following: Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect Frequent infections Certain facial features, such as an underdeveloped [mayoclinic.org]

• Cyanosis

  Signs and symptoms may include some combination of the following: Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect Frequent infections Certain facial features, such as an underdeveloped [mayoclinic.org]

• Low Set Ears

  These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or flattened groove in the upper lip. [mayoclinic.org]

DiGeorge syndrome (22q11.2 deletion syndrome) Symptoms & causes Diagnosis & treatment [mayoclinic.org]

PMID: 2022740Free PMC Article Prognosis Zhang M, Luo JL, Sun Q, Harber J, Dawson AG, Nakas A, Busacca S, Sharkey AJ, Waller D, Sheaff MT, Richards C, Wells-Jordan P, Gaba A, Poile C, Baitei EY, Bzura A, Dzialo J, Jama M, Le Quesne J, Bajaj A, Martinson [ncbi.nlm.nih.gov]

PMID: 25569438Free PMC Article Etiology Meneses Z, Durant J, Ale H Genes (Basel) 2022 Oct 26;13(11) doi: 10.3390/genes13111949. [ncbi.nlm.nih.gov]

Prevention In some cases, DiGeorge syndrome (22q11.2 deletion syndrome) may be passed from an affected parent to a child. [mayoclinic.org]