New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

Sao Paulo Medical Journal

Paulo Ricardo Gazzola Zen²  Rafael Fabiano Machado Rosa¹  Rosana Cardoso Manique Rosa¹  Carla Graziadio¹  Giorgio Adriano Paskulin¹ 

[1] ,Universidade Federal de Ciências da Saúde de Porto Alegre Program and Clinical Geneticist

关键词: Mosaicism;    Chromosomes;    human;    pair 9;    Chromosome aberrations;    Goldenhar syndrome;    Survivorship (Public health);    Mosaicismo;    Cromossomos humanos par 9;    Aberrações cromossômicas;    Síndrome de Goldenhar;    Sobrevida;   

DOI  :  10.1590/S1516-31802011000600010

来源: SciELO

【 摘 要 】

CONTEXT: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS: The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent forehead, triangular and asymmetric face, thin lips, right microtia with overfolded helix, small hands, micropenis (< P10), small testes and hallux valgus. His lymphocyte karyotype was mos 47,XY,+9 [4 ]/46,XY [50 ]. Additional cytogenetic assessment of the skin showed normal results. The second patient was a two-year-old girl who was initially assessed at five months of age, when she presented weight of 5.3 kg (< P3), height of 61.5 cm (P2-P10), head circumference of 40.5 cm (P25), sparse hair, micrognathia, right ear with overfolded helix and preauricular pit, triphalangeal thumbs and sacral dimple. She also had a history of congenital heart disease, hearing loss, hypotonia, delayed neuropsychomotor development and swallowing disorder. Her lymphocyte karyotype was mos 47,XX,+9 [3 ]/46,XX [69 ]. Both patients had unusual clinical findings (the first, hemifacial hypoplasia associated with microtia, with a phenotype of oculo-auriculo-vertebral spectrum, and the second, triphalangeal thumbs and hearing loss) and survival greater than what is usually described in the literature (< 1 year). Further reports will be critical for delineating the clinical features and determining the evolution of patients with mosaic trisomy 9

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