Balkan Journal of Medical Genetics

RARE CASE OF A HETEROZYGOUS MICRODELETION 9q21.11-q21.2: CLINICAL AND GENETIC CHARACTERISTICS
Ivanov HY, Stoyanova V, Ivanov I, Linev A, Vazharova R, Ivanov S, Balabanski L, Toncheva D
*Corresponding Author: Dr. Hristo Y. Ivanov, Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Vasil Aprilov 15-A Str., Plovdiv 4002, Bulgaria. Tel: +359-884-827-070. Fax: +359-326-022-338. E-mail: doctorhristoivanov@yahoo.com
page: 59

CLINICAL REPORT

The proband is a 10-year-old girl. She was referred to us for genetic consultation because of mild intellectual disability, speech delay and mild facial dysmorphism. She was born full-term to non consanguineous healthy parents after an uneventful pregnancy with no evidence of asphyxia. At birth, weight, length, and head circumference were normal. There was no relevant family history. She had a history of global developmental delay in infancy. She walked at the age of 2 years. She said her first words at 18 months of age and her first short sentence at the age of 2 years. At the age of 6 she was admitted to the hospital to establish a diagnosis regarding her developmental delay and short stature. She attends a mainstream school with teacher aide support. On examination, her height was 135 cm, weight 29 kg and head circumference 53.2 cm. She had an elongated face with a prominent chin, broad forehead, arched bushy eyebrows and long eyelashes. She had hypertelorism and the palpebral fissures were down-slanting. Her nose had a broad prominent root. Her palate was narrow and highly arched. She had a thin upper lip, long philtrum, dystrophic teeth and excessive salivation. She had pes planus with large feet and short toes (Figure 1). After a walk of kilometer and a half she complained of cramp (pain) in her calves. A consultation with a child psychologist showed a mild intellectual disability (IQ ~55, Wechsler Intelligence Scale for Children was used), cognitive deficits in attention with reduced volume, stability and concentration. Memory: difficulty in remembering and reproducing information. Thinking: clearly, figuratively. Cranial computed tomography (CT) scans and ultrasound of internal organs were performed and were normal. Cytogenetic analysis was performed on cultured lymphocytes and skin fibroblasts by G-banding according to standard procedures. The SNP-array karyotyping was performed using microarray Illumina Human CytoSNP-12 (Illumina Inc., San Diego, CA, USA). The microchip contains a total of number of 301,232 SNP variants representative of the entire human genome. Genomic positions refer to the Human Genome February 2009 assembly (GRCh37/ hg19). Cytogenetic analysis revealed a low-level mosaicism in blood and skin of the girl with a cell line carrying a small additional marker ring chromosome: mos47,XX,+mar[4]/ 46,XX[96] (lymphocytes) and mos47,XX,+mar[16]/46,XX [84] (skin fibroblasts). The mother had a normal karyotype. Chromosomal analyses of the father could not be carried out due to his lack of consent. (Figure 2). For further characterization of the found marker chromosomes we applied SNP-array of genomic DNA from buccal swab, which showed a heterozygous partial deletion of the long arm of the chromosome 9 with size of about 9655 Mb. The deletion encompasses 43 human genes (Figure 3). To clarify the origin of the marker chromosome we offered fluorescent in situ hybridization (FISH) analysis, but the mother refused.

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