Trisomy 14 mosaicism: Clinical and cytogenetic findings in an adult

Clinical Dysmorphology

Volumn 21, Issue 1, 2012, Pages 45-47

  Fagerberg, Christina R ^a,b   Eriksen, Finn B ^a   Thormann, Jens ^c   Østergaard, John R ^d  

^a LILLEBAELT HOSPITAL   (Denmark)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c Dermatology Clinic   (Denmark)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BODY MASS; BODY WEIGHT; CASE REPORT; CHROMOSOME ANALYSIS; CYTOGENETICS; DYSLEXIA; FACE ASYMMETRY; FEMALE; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MACROCEPHALY; MEMORY DISORDER; MENARCHE; METAPHASE; MOSAICISM; NEUROPSYCHOLOGICAL TEST; OBESITY; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SKIN PIGMENTATION; TRISOMY; TRISOMY 14 MOSAICISM;

ADULT; BODY HEIGHT; CHROMOSOMES, HUMAN, PAIR 14; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; KARYOTYPING; MOSAICISM; PHENOTYPE; SKIN PIGMENTATION; TRISOMY;

EID: 83255194085     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834a0436     Document Type: Article

References (7)

1. Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP (1992). Natural history of trisomy 14 syndrome. Am J Med Genet 44:189-196.
2. Horn D, Happle R, Neitzel H, Kunze J (2002). Pigmentary mosaicism of the hyperpigmented type in two half-brothers. Am J Med Genet 112:65-69.
3. Merritt TA, Natarajan G (2007). Trisomy 14 mosaicism: a case without evidence of neurodevelopmental delay and a review of the literature. Am J Perinatol Oct 24:563-566. (Pubitemid 47623688)
4. Papavasiliou P, York TP, Gursoy N, Hill G, Nicely LV, Sundaram U, et al. (2009). The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues. Am J Med Genet A 149A:573-583.
5. Petersen MB, Vejerslev LO, Beck B (1986). Trisomy 14 mosaicism in a 2 year old girl. J Med Genet 23:86-88. (Pubitemid 16149535)
6. Shinawi M, Shao L, Jeng LJB, Shaw CA, Patel A, Bacino C, et al. (2008). Low level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A 146A:1395-1405. (Pubitemid 351770203)
7. Tucker ME, Garringer HJ, Weaver DD (2007). Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. Am J Med Genet A 143A:505-517. (Pubitemid 46348922)