Introduction: Bicuspid aortic valve is the most common congenital cardiac malformation (CCM) in adults and is 30–50 times more frequent in Turner syndrome (TS). We hypothesize that both X and Y chromosome dosages contribute to the prevalence of CCM in TS. The recognition of genotype-phenotype correlations may improve risk stratification of patients with 45,X karyotypes who have cryptic Y chromosome mosaicism. Methods: Utilizing data and samples from the UTHealth Turner Syndrome Research Registry, we correlated Y chromosome DNA identified by multiplex quantitative PCR and SNP microarrays with the presence of congenital heart lesions. Results: We identified Y chromosome DNA in more than 10% of registry participants, including 2 participants who had no detectable Y DNA by karyotype or SNP microarray. Conclusions: There were no significant correlations between the presence of Y DNA and CCM.

1.
Gravholt
CH
,
Andersen
NH
,
Conway
GS
,
Dekkers
OM
,
Geffner
ME
,
Klein
KO
.
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
.
Eur J Endocrinol
.
2017
177
3
G1
70
.
2.
El-Mansoury
M
,
Barrenas
ML
,
Bryman
I
,
Hanson
C
,
Larsson
C
,
Wilhelmsen
L
.
Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome
.
Clin Endocrinol
.
2007
;
66
(
5
):
744
51
.
3.
Mortensen
KH
,
Andersen
NH
,
Gravholt
CH
.
Cardiovascular phenotype in Turner syndrome: integrating cardiology, genetics, and endocrinology
.
Endocr Rev
.
2012
;
33
(
5
):
677
714
.
4.
Uematsu
A
,
Yorifuji
T
,
Muroi
J
,
Kawai
M
,
Mamada
M
,
Kaji
M
.
Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype
.
Am J Med Genet
.
2002
;
111
(
2
):
134
9
.
5.
Mathur
A
,
Stekol
L
,
Schatz
D
,
MacLaren
NK
,
Scott
ML
,
Lippe
B
.
The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype
.
Am J Hum Genet
.
1991
;
48
(
4
):
682
6
.
6.
Hassold
T
,
Pettay
D
,
Robinson
A
,
Uchida
I
.
Molecular studies of parental origin and mosaicism in 45,X conceptuses
.
Hum Genet
.
1992
;
89
(
6
):
647
52
.
7.
Lorda-Sanchez
I
,
Binkert
F
,
Maechler
M
,
Schinzel
A
.
Molecular study of 45,X conceptuses: correlation with clinical findings
.
Am J Med Genet
.
1992
;
42
(
4
):
487
90
.
8.
Cortes-Gutierrez
EI
,
Herrera-Bartolo
R
,
Davila-Rodriguez
MI
,
Palacios-Saucedo
GC
,
Vargas-Villarreal
J
,
Romero-Villarreal
JB
.
Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome
.
Oncol Rep
.
2012
;
28
(
4
):
1205
10
.
9.
Barbosa
LG
,
Siviero-Miachon
AA
,
Souza
MA
,
Spinola-Castro
AM
.
Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue
.
Ann Pediatr Endocrinol Metab
.
2021
;
26
(
4
):
272
7
.
10.
Prakash
SK
,
Bondy
CA
,
Maslen
CL
,
Silberbach
M
,
Lin
AE
,
Perrone
L
.
Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: the NHLBI GenTAC registry
.
Am J Med Genet A
.
2016
;
170
(
12
):
3157
64
.
11.
Klaskova
E
,
Zapletalova
J
,
Kapralova
S
,
Snajderova
M
,
Lebl
J
,
Tudos
Z
.
Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening
.
J Pediatr Endocrinol Metab
.
2017
;
30
(
3
):
319
25
.
12.
Tan
CMJ
,
Lewandowski
AJ
.
The transitional heart: from early embryonic and fetal development to neonatal life
.
Fetal Diagn Ther
.
2020
;
47
(
5
):
373
86
.
13.
O’Rahilly
R
.
The timing and sequence of events in the development of the human reproductive system during the embryonic period proper
.
Anat Embryol
.
1983
;
166
(
2
):
247
61
.
14.
Harris
PA
,
Taylor
R
,
Minor
BL
,
Elliott
V
,
Fernandez
M
,
O’Neal
L
.
The REDCap consortium: building an international community of software platform partners
.
J Biomed Inform
.
2019
;
95
:
103208
.
15.
Harris
PA
,
Taylor
R
,
Thielke
R
,
Payne
J
,
Gonzalez
N
,
Conde
JG
.
Research electronic data capture (REDCap): a metadata-driven methodology and workflow process for providing translational research informatics support
.
J Biomed Inform
.
2009
;
42
(
2
):
377
81
.
16.
Butler
JM
,
Schoske
R
,
Vallone
PM
,
Kline
MC
,
Redd
AJ
,
Hammer
MF
.
A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers
.
Forensic Sci Int
.
2002
;
129
(
1
):
10
24
.
17.
Sallai
A
,
Solyom
J
,
Dobos
M
,
Szabo
J
,
Halasz
Z
,
Sagodi
L
.
Y-chromosome markers in Turner syndrome: screening of 130 patients
.
J Endocrinol Invest
.
2010
;
33
(
4
):
222
7
.
18.
Loftfield
E
,
Zhou
W
,
Graubard
BI
,
Yeager
M
,
Chanock
SJ
,
Freedman
ND
.
Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank
.
Sci Rep
.
2018
;
8
(
1
):
12316
.
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