A Case with 47, XXY, del(15)(q11;q13) Karyotype Associated with Prader-Willi Phenotype

Abstract

Herein we present the case of a 12-year-old boy who attended our clinic for obesity and hyperphagia. As a newborn he was noted to have diffuse muscular hypotonia and poor sucking response. At the age of 11 years, he was admitted to hospital for respiratory insufficiency. He had personality disorders characterized by temper tantrums and violent outbursts including self-mutilation. Physical evaluation revealed marked central obesity, he had small hands and feet, and also genital hypoplasia. Of the biochemical parameters, hyperglycemia and a low serum testosterone level must be emphasized. The patient fulfills the clinical criteria of typical Prader-Willi syndrome. Cytogenetic and fluorescence in situ hybridization analysis showed a karyotype 47, XXY, del(15)(qll;ql3). To our knowledge this is the first report of the aforementioned genotype expressed as Prader-Willi phenotype in childhood.

Prader-Willi syndrome

“…On rare occasions, a second chromosomal anomaly is noted in addition to the 15q11.2 deletion, such as Klinefelter syndrome. [155][156][157] Counseling of the family regarding the clinical fathers of children with an IC deletion should have DNA methylation and dosing analysis (or sequence analysis) to determine whether they carry the IC deletion.…”

Klinefelter’s Syndrome and Prader-Willi Syndrome: A Rare Combination

“…In conclusion, this is the second report on a patient with KS and PWS and UPD, whose behavioral phenotype [15] 15 no deletion; no further specification PWS phenotype; simultaneous diagnosis at age 7 Ustinova et al [18] child unknown mosaicism KS Butler and Hedges [11] 7 UPD PWS phenotype; initial diagnosis of KS at age 2 Rego et al [19] 12 deletion PWS phenotype; simultaneous diagnosis at age 12 Geffroy et al [20] 6 deletion PWS phenotype; initial diagnosis of KS postnatally Nowaczyk et al [10] 10 deletion PWS phenotype; simultaneous diagnosis at age 10 Schneider et al [21] 4.5 deletion PWS phenotype; prenatal diagnosis of KS Fig. 3.…”

Prader‐Willi–like phenotype and the proximal long arm of the X chromosome

“…In a group of patients the Xchromosome abnormality coincides with either UPD (uniparental disomy) or deletion of the PWS-region on chromosome 15 [Butler et al, 1997;Rego et al, 1997]. In a group of patients the Xchromosome abnormality coincides with either UPD (uniparental disomy) or deletion of the PWS-region on chromosome 15 [Butler et al, 1997;Rego et al, 1997].…”