6533b85bfe1ef96bd12bab41
RESEARCH PRODUCT
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
Ulrich ZechnerGabriele Frey-mahnVera BeyerAndré KidszunAlexandra RussoAnne-jule FuchsEva MildenbergerOliver BartschMarius Bartschsubject
MalePediatricsmedicine.medical_specialtyBiologyUpper ExtremityNeonatal ScreeningMeiosisGeneticsmedicineHumansAbnormalities MultipleMuscle SkeletalX chromosomeChromosomes Human XMuscular hypotoniaMeiosis IIInfant NewbornKaryotypeGeneral MedicineAnatomySyndromemedicine.diseaseLow birth weightNondisjunction49 XXXXY syndromemedicine.symptomdescription
A case of neonatal diagnosis of 49,XXXXY syndrome is presented. Clinical identification was prompted by a bilateral thickening of the radioulnar joints and X-ray imaging disclosing almost complete radioulnar synostosis. Conventional karyotyping was initiated and revealed a karyotype of 49,XXXXY. Previously reported neonatal symptoms such as low birth weight, muscular hypotonia, or genital malformations were absent in this case. Microsatellite analysis showed two different X chromosomes each present in two copies, supporting that the four X chromosomes had arisen from a nondisjunction in maternal meiosis I followed by a second nondisjunction involving both X chromosomes in meiosis II. Multidisciplinary follow-up was organised to ensure timely recognition of associated complications. Early awareness of the diagnosis may offer a potential benefit regarding outcome.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2012-10-01 | Gene |