Identification of a de novo inv dup(X)(pter--> q22) by multicolor banding in a girl with Turner syndrome.
We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding probe set for the X-chromosome characterized an inverted dup(X). The karyotype of the patient was therefore interpreted as 46,X,inv dup(X) (pter --> q22::q22 --> pter). This patient had a mosaic Turner syndrome with a cell line comprising partial trisomy Xpter to Xq22 and partial monosomy Xq22 to Xqter.
Burégio-Frota
P
P
Departamento de Genética, Centro de Ciências Biológicas, Universidade Federal de Pernambuco, Recife, PE, Brazil.
Valença
L
L
Leal
G F
GF
Duarte
A R
AR
Bispo-Brito
A V S
AV
Soares-Ventura
E M
EM
Marques-Salles
T J
TJ
Nogueira
M T M C
MT
Muniz
M T C
MT
Silva
M L M
ML
Hunstig
F
F
Liehr
T
T
Santos
N
N
D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D014424:Turner Syndrome / Q000235:genetics*; D055815:Young Adult