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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Frey-Mahn G, Behrendt G, Geiger K, Sohn C, Schafer D, Miny P.: Y chromosomal polysomy: a unique case of 49,XYYYY in amniotic fluid cells. AJMG DOI=10.1002/ajmg.a.10051; 118A:184-186, 2003. [PubMed: 12655500]
- Kauschansky A, Sirota L, Elian E, Assa S, Lewin-Prager R: Endocrine studies in a 49,XYYYY male. Israel J. Med. Sci. 18:647-648, 1982. [PubMed: 7096052]Patient was 3 years old.
- Noel B, Benezech M, Bouzon M T, Coudrot D: Seven-year-old child 49,XYYYY. Ann. Genet. 31:111-116, 1988. [PubMed: 3261145]Main features were large stature, speech delay, and sensorimotor dysfunction.
- Paoloni-Giacobino A, Lespinasse J: Chromosome Y polysomy: a non-mosiac 49,XYYYY case Clin. Dysmorphology 16:65-66, 2007. [PubMed: 17159520]49,XYYYY[50]At the age of 26 years, the patient had mild to moderate retardation and behavioral disturbance. Genitalia were normally developed. The patient was first assessed at 4 months of age for developmental delay. It is not clear to me (DSB) at what age the chromosome abnormality was detected.
- Plauchu H, Charrin C, Kossmann J C: The 49,XYYYY syndrome: about a case detected at birth and followed during two years and six months. J. Genet. Hum. 32:299-306, 1984. [PubMed: 6491641]
- Shanske A, Sachmechi I, Patel D K, Bishnoi A, Rosner F.: An adult with 49,XYYYY karyotype: case report and endocrine studies. AJMG 80:103-106, 1998. [PubMed: 9805123]The patient was 30 years old from Guyana born to nonconsanguinous couple of Indian (Asiatic) ethnic origin. He was referred for evaluation of his severe MR, violent behavior, prognathism, hypogonadism, and azoospermia.
- Sirota L, Shaghapour S E, Elitzur A, Sirota P: Neurodevelopmental and psychological aspects in a child with 49,XYYYY karyotype. Clin. Genet. 30:471-474, 1986. [PubMed: 3815880]
Sirota L, Zlotogora Y, Shabtai F, Halbrecht I, Elian E: 49,XYYYY. A case report. Clin. Genet. 19:87-93, 1981. [PubMed: 7471512]Patient was 14 months old with unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, inguinal hernia and a DQ of 70.Using the cell line from this patient a YAC library was constructed and the Y chromosome sequencing work was done(see articles by colleagues of Dr. Page, under 0Y0000 (Foote and Vollrath, 1992).The patient was 2 years old and had an IQ of 51.Index Terms: Brachydactyly,Clinodactyly,Facial dysmorphism,Hernia ... inguinal - van den Berghe H, Verresen H, Cassiman J J: A male with 4 Y-chromosomes. J. Clin. End. Met. 28:1370-1372, 1968. [PubMed: 5679999]45,X/49,XYYYY mosaic.,A 15-year-old boy was studied.
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