Trisomy 18 at age 21 years

Here we report on a woman with non‐mosaic trisomy 18, who is now 21 years old. She has the characteristic face of older trisomy 18 survivors, marked kyphoscoliosis, spastic quadriplegia with contractures, and profound mental retardation. She has pyorrhea with loss of three canine teeth. At 20.5 year...

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Veröffentlicht in:	American journal of medical genetics 1989-11, Vol.34 (3), p.338-339
Hauptverfasser:	Smith, A., Field, B., Learoyd, B. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Adult Biological and medical sciences Chromosome aberrations Chromosome Aberrations - pathology Chromosome Disorders Chromosomes, Human, Pair 18 delayed puberty Female Gingivitis - genetics Humans Intellectual Disability - genetics kyphoscoliosis Medical genetics Medical sciences mental retardation poor dentition Puberty, Delayed - genetics Quadriplegia - genetics Spinal Diseases - genetics Trisomy
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Beschreibung
Zusammenfassung:	Here we report on a woman with non‐mosaic trisomy 18, who is now 21 years old. She has the characteristic face of older trisomy 18 survivors, marked kyphoscoliosis, spastic quadriplegia with contractures, and profound mental retardation. She has pyorrhea with loss of three canine teeth. At 20.5 years, she had her first menstrual cycle with development of secondary sexual characteristics.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320340309