1976
DOI: 10.1007/bf00444650
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Trisomy 8 mosaicism

Abstract: A 16-year-old boy with trisomy 8 mosaicism is presented. Increased birth weight, delayed psychomotoric and accelerated somatic development, and mental retardation were noted; he exhibited a prominent forehead, a broad-bridged upturned nose, an everted lower lip, low set dysmorphic ears, strabismus, slender trunk, narrow pelvis, osseous and joint anomalies, clinodactyly, deep skin furrows on the soles, and agenesis of the corpus callosum. The trisomic cell line was observed throughout the follow-up examinations… Show more

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Cited by 16 publications
(9 citation statements)
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“…Complete somatic trisomy 8 is rarely compatible with life and often results in miscarriage [5]. Trisomy 8 mosaicism (T8M), on the other hand, is a form of trisomy 8 in which some of the body's cells have three copies of chromosome 8 while other cells still possess the normal two copies.…”
Section: Introductionmentioning
confidence: 99%
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“…Complete somatic trisomy 8 is rarely compatible with life and often results in miscarriage [5]. Trisomy 8 mosaicism (T8M), on the other hand, is a form of trisomy 8 in which some of the body's cells have three copies of chromosome 8 while other cells still possess the normal two copies.…”
Section: Introductionmentioning
confidence: 99%
“…Therefore, T8M can present with a wide range of clinical manifestations and extremely variable phenotype [6]. Some of the common musculoskeletal features of T8M include joint contractures, long and narrow thorax with wide sloping ribs, hypoplastic glenoid cavities, symmetrical widening of the clavicles, abnormal sternum, narrow pelvis and hip dysplasia [5-8]. …”
Section: Introductionmentioning
confidence: 99%
“…The trisomy 8 mosaicism syndrome (T8M) is a chromosomal disorder due to the presence of a complete extra chromosome 8 in some cells of the body. The anesthetic management of the patient may provide some problems such as a difficult tracheal intubation, cardiac malformation, hematological malignancies, mental retardation and kidney dysfunction [ 1 , 2 ]. This seems to be the first report on myelodysplastic syndrome patients with T8M who experienced a laparoscopic cholecystectomy under general anesthesia.…”
mentioning
confidence: 99%
“…T8M is usually characterized by distinct facial features, including palate abnormalities, eye abnormalities, a bulbous tipped nose, low-set or abnormally shaped ears, bone and tissue abnormalities, various structural heart problems, hydronephrosis, cryptorchidism, mental delay and deep hand and feet creases. These characteristics are manifested by various appearances [ 1 ].…”
mentioning
confidence: 99%
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