A recent physical examination showed a X inactivation, the theoretically expected five equal classes mentally retarded young adult, with poor language develof cells with one active X chromosome and four inactive X opment, marfanoid habitus and disproportionate [youscribe.com]

A recent physical examination showed a mentally retarded young adult, with poor language development, marfanoid habitus and disproportionate upper/lower body segments (Figure 1 ); her profile was very flat; with ocular hypertelorism, upslanting palpebral [doi.org]

The characteristic phenotype associated with a 49,XXXXX karyotype is more severe than in X trisomies and tetrasomies [ 25, 31 ], including severe mental retardation with delayed speech development, short stature, coarse facial features, osseous and articular [doi.org]

Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]

1/19 [ ] Congenital Heart Disease 9/20 [ ] upward slanting palpebral fissures 8/19 [ ] Skeletal Anomalies hypertelorism 2/6 [ ] proximal radioulnar synostosis 2/6 [ ] ear anomalies 11/20 [ ] hand arachnodactyly 1/6 [ ] depressed nasal bridge 1/6 [ ] hyperlaxity [ncbi.nlm.nih.gov]

She had microcephaly but no cranial asymmetry, and normal pinnae with some posterior rotation of the right. An epicanthic fold was indicated on the right; the nasal bridge was broad, but there was no hyper- telorism. [documents.tips]

Case report: We present a 28 month old female patient with short stature, brachycephaly, characteristic facies, with female external genitalia, hypoplasic labia majora, brachydactyly, bilateral clinodactyly of the fifth finger, dislocation of the right [scielo.org.co]

Osteopenia Pentasomy X syndrome Premature ovarian failure Tetrasomy X syndrome Pediatrics, Perinatology, and Child Health Cite this Apa Standard Harvard Vancouver BIBTEX RIS Wood, A, Kleis, L, Toriello, H & Cemeroglu, AP 2011, ' Mosaic pentasomy X/tetrasomy [scholars.opb.msu.edu]

Cranial nerve function was intact except for ptosis and an intermittent esotropia. Optic fundi were normal. Dermatoglyphics: Two arches, three ulnar and one radial loop, four whorls on fingertips, and distally positioned axial palmar triradii (t"). [documents.tips]

Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. [ncbi.nlm.nih.gov]