A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy

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A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy

Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scolios...

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Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines

We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...

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Concurrent insulinoma with mosaic Turner syndrome: A case report

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine...

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A baby with limb length discrepancy.

From the Department of Orthopedic Surgery, Sri Ram Murti Samarak Institute of Medical Sciences, Bhojipura, Bareilly, Uttar Pradesh, India. Address correspondence to: Dr. Yasir S. Siddiqui, Department of Orthopedic Surgery, PO Box 71, Sri Ram Murti Samarak Institute of Medical Sciences, Bhojipura, Bareilly, Uttar Pradesh, India. Tel. +919 (83) 7343400. Fax. +915 (71) 2702758. E-mail: yassu98@gma...

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Mosaic Turner syndrome associated with schizophrenia

Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndro...

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ژورنال

عنوان ژورنال: Clinical Pediatric Endocrinology

سال: 2017

ISSN: 0918-5739,1347-7358

DOI: 10.1297/cpe.26.259