title: Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
abstract: We report on a 13-year-old girl with normal karyotype and a de novo cryptic terminal deletion of chromosome 2q, detected by subtelomeric FISH analysis. Further investigation with array-CGH analysis using the 1Mb resolution Spectral Chip 2600 (Spectral Genomics) confirmed the deletion and also showed a deletion of four additional clones. No other abnormalities were detected by array-CGH. FISH studies using 8 BAC-probes were performed for fine mapping of the deletion and confirmed the array results. FISH analysis showed that the deletion breakpoint lies between clones RP11-84G18 and RP11-83N2 (physical distance between clones 0.36Mb) and extends to the telomere. The size of the deletion was estimated to be about 6.4-6.7Mb. Clinical findings include: developmental delay, severe behavioural disturbances, growth-pubertal retardation, congenital conductive mild hearing loss, growth hormone deficiency, compensate hypothyroidism, dysmorphic facial features, excessive joint hypermobility, brachymetaphalangy, abnormal dermatoglyphics and a history of neonatal laryngomalacia, hypotonia and umbilical hernia. The phenotype of our patient is in keeping with those of the literature, with the exception of cardiovascular, urogenital, neurological anomalies and eczema, which were not observed. The report of the clinical and molecular presentation of similar cases will allow accurate phenotype-genotype correlation and proper genetic counseling of the family.
authors.affiliation: Medical Genetics Laboratory, University of Athens, Choremio Research Laboratory, "Aghia Sophia" Children's Hospital, Athens, Greece.
authors.forename: Sofia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Carolina
authors.initials: C
authors.lastname: Sismani
authors.forename: Marios
authors.initials: M
authors.lastname: Ioannides
authors.forename: Stavros
authors.initials: S
authors.lastname: Bashiardes
authors.forename: Andria
authors.initials: A
authors.lastname: Ketoni
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Touliatou
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Kolialexi
authors.forename: Ariadni
authors.initials: A
authors.lastname: Mavrou
authors.forename: Emanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Philippos C
authors.initials: PC
authors.lastname: Patsalis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007593:Joint Instability / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D016615:Telomere / Q000235:genetics*