New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl.
BACKGROUND
The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with non-mosaic tetrasomy 9p is poor, and they usually die at a very early age.


METHODS
In this article we present a new case of complete tetrasomy 9p in a newborn girl with multiple dysmorphologic features. Cytogenetic studies were carried out by CBG, GTG, and QFQ chromosome bandings, as well as by fluorescence in situ hybridization (FISH). The cytogenetic findings for the newborn girl showed an extra chromosome interpreted as an isochromosome 9p. The karyotype was characterized as 47,XX,+mar.ish i(9)(p10)(wcp9+). The parental chromosomes were normal.


CONCLUSIONS
The karyotype and clinical features of the newborn girl (e.g., typical craniofacial dysmorphism, severe skeletal anomalies, and visceral and genito-urinary malformations), compared with cases reported in the literature, give additional support to a clinical definition of this chromosomal syndrome.
de Azevedo Moreira
Lília Maria
LM
Laboratório de Genética Humana e Citogenética, Instituto de Biologia, Universidade Federal da Bahia, Campus Universitário de Ondina, Bahia, Brazil. lazevedo@ufba.br
Freitas
Lucy Magalhães
LM
Gusmão
Fábio Alexandre Ferreira
FA
Riegel
Mariluce
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008423:Maternal Age; D009030:Mosaicism / Q000235:genetics*; D018566:Pregnancy, High-Risk