title: The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
abstract: We report on two patients with overlapping small interstitial deletions involving regions 14q12 to 14q13.1. Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epicanthal folds, sloping forehead, low-set ears, rounded eyebrows with triangular media aspect and outer tapering, depressed and broad nasal bridge, small mouth, a long philtrum, and a prominent Cupid's bow. Brain MRI of both children showed partial agenesis of the corpus callosum. Our first patient had bilateral hypoplastic optic nerves causing blindness, mild hearing impairment, sinus arrhythmia, abnormal temperature regulation, frequent apneic episodes, myoclonic jerks, and opisthotonus. Our second patient had a seizure disorder confirmed by EEG, sleep apnea, chronic interstitial lung disease, and several episodes of pneumonia and gastroenteritis. Cytogenetic analysis showed a normal karyotype in Patient 1 and a unique apparently balanced three-way translocation in Patient 2 involving chromosomes 4, 14, and 11. High resolution SNP Oligonucleotide Microarray Analysis (SOMA) revealed a deletion in the proximal region of chromosome 14q overlapping with the deletion of our first patient, and no copy number changes in chromosomes 4 and 11. Here, we review and compare published cases with a deletion involving the 14q12-22.1 chromosomal region in an effort to correlate phenotype and genotype. We also examine the underlying genomic architecture to identify the possible mechanism of the chromosomal abnormality. Our review found a patient with a mirror duplication of our first patient's deletion, confirming the existence of an underlying genomic structural instability in the region. © 2011 Wiley-Liss, Inc.
authors: College of Physicians and Surgeons of Columbia University, New York, New York, USA. edina.torgyekes@gmail.com
authors: Edina
authors: E
authors: Torgyekes
authors: Alan L
authors: AL
authors: Shanske
authors: Kwame
authors: K
authors: Anyane-Yeboa
authors: Odelia
authors: O
authors: Nahum
authors: Sara
authors: S
authors: Pirzadeh
authors: Einat
authors: E
authors: Blumfield
authors: Vaidehi
authors: V
authors: Jobanputra
authors: Dorothy
authors: D
authors: Warburton
authors: Brynn
authors: B
authors: Levy
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001766:Blindness; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D056726:Genetic Association Studies; D006801:Humans; D006972:Hypertelorism; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D009900:Optic Nerve / Q000002:abnormalities; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome; D014178:Translocation, Genetic