Interstitial deletion of bands 11q21?22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes

Abstract

A 3-year-old girl has a de novo deletion of 11q21-22.3. The patient was studied because of minor anomalies, disproportionate short stature, and developmental delay. The deletion was first detected by conventional cytogenetic analysis and defined further by using chromosome 11-specific YAC clones by fluorescent in situ hybridization (FISH) on metaphase chromosomes. Three YAC clones, 11H7, 4A5, and IH4, were lacking from one of the patient's chromosome 11. Trigonocepahly, hypertelorism, apparently low-set ears, mild renal abnormality, and delay in speech development found in our patient are similar findings in other published interstitial deletion cases. Our study shows that a molecular cytogenetic approach is useful in defining the specific location and the extent of an interstitial deletion in cytogenetically difficult areas such as 11q.

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

“…In literature [8,10,12,16,20] a psychomotor delay and a language disorder were described, in a few cases, as an expressive disorder. Our patient also showed the particular trait of a childhood apraxia of speech.…”

Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region

“…Horelli‐Kuitunen et al 1999 described a de novo deletion of 11q21–q22.3 in a 3‐year‐old girl with disproportionate short stature, hypotonia with “myopatic changes” at the muscle biopsy, developmental delay, hypertelorism, low‐set ears, pes equinovarus of the right foot, mild hydronephrosis, enlarged cerebral lateral ventricles and thin corpus callosum. Meyer et al 2000 reported a 11q21–q23.1 deletion in a 21‐year‐old woman associated with motor and speech developmental delay in infancy, congenital heart defect, craniofacial anomalies, menstrual irregularity, hirsutism, elevated serum androgen levels and polycystic ovary syndrome.…”

Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

“…Molecularly defined large interstitial deletions overlapping the 11q21-q22 region have been reported in at least six patients (Horelli-Kuitunen et al, 1999;Syrrou and Fryns, 2001;Li et al, 2006;Goumy et al, 2008;Sparkes et al, 2009;Krgovic et al, 2011). Deletion of this region is associated with a variable phenotype, which may include developmental delay, dysmorphic features and congenital anomalies.…”