Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

D Marcus-Soekarman; G Hamers; A L M Mulder; Jeanne Offermans; Jos Offermans; J Engelen; J C M van Lent-Albrechts; S G F Robben; S de Muinck Keizer-Schrama; K P Wolffenbuttel; L H J Looijenga; J W Oosterhuis; C Schrander-Stumpel; J Nijhuis

doi:10.1002/pd.996

Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

D Marcus-Soekarman, G Hamers, A L M Mulder, Jeanne Offermans, Jos Offermans, J Engelen, J C M van Lent-Albrechts, S G F Robben, S de Muinck Keizer-Schrama, K P Wolffenbuttel, L H J Looijenga, J W Oosterhuis, C Schrander-Stumpel, J Nijhuis

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas in counselling. This is illustrated by this case report of a 35-year-old woman, who presented at the end of the second trimester of her first pregnancy. Sonographic examination indicated an abnormal external genital in a male fetus. A differential diagnosis of hypospadia was made. During follow-up, an amniocentesis was performed, and this showed a 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype as the cause of the sonographic findings. Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed.

Original language	English
Pages (from-to)	279-82
Number of pages	4
Journal	Prenatal diagnosis
Volume	25
Issue number	4
DOIs	https://doi.org/10.1002/pd.996
Publication status	Published - Apr 2005
Externally published	Yes

Keywords

Abnormalities, Multiple
Adult
Chromosome Banding
Chromosomes, Human, X/genetics
Chromosomes, Human, Y/genetics
Female
Humans
Hypospadias/diagnostic imaging
Infant, Newborn
Isochromosomes
Karyotyping
Male
Mosaicism
Pregnancy
Sex Chromosome Aberrations
Ultrasonography, Prenatal

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10.1002/pd.996

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Marcus-Soekarman, D., Hamers, G., Mulder, A. L. M., Offermans, J., Offermans, J., Engelen, J., van Lent-Albrechts, J. C. M., Robben, S. G. F., de Muinck Keizer-Schrama, S., Wolffenbuttel, K. P., Looijenga, L. H. J., Oosterhuis, J. W., Schrander-Stumpel, C., & Nijhuis, J. (2005). Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype. Prenatal diagnosis, 25(4), 279-82. https://doi.org/10.1002/pd.996

@article{54164c40a6284f3c9ae3d4bf2750e930,

title = "Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype",

abstract = "Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas in counselling. This is illustrated by this case report of a 35-year-old woman, who presented at the end of the second trimester of her first pregnancy. Sonographic examination indicated an abnormal external genital in a male fetus. A differential diagnosis of hypospadia was made. During follow-up, an amniocentesis was performed, and this showed a 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype as the cause of the sonographic findings. Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed.",

keywords = "Abnormalities, Multiple, Adult, Chromosome Banding, Chromosomes, Human, X/genetics, Chromosomes, Human, Y/genetics, Female, Humans, Hypospadias/diagnostic imaging, Infant, Newborn, Isochromosomes, Karyotyping, Male, Mosaicism, Pregnancy, Sex Chromosome Aberrations, Ultrasonography, Prenatal",

author = "D Marcus-Soekarman and G Hamers and Mulder, {A L M} and Jeanne Offermans and Jos Offermans and J Engelen and {van Lent-Albrechts}, {J C M} and Robben, {S G F} and {de Muinck Keizer-Schrama}, S and Wolffenbuttel, {K P} and Looijenga, {L H J} and Oosterhuis, {J W} and C Schrander-Stumpel and J Nijhuis",

year = "2005",

month = apr,

doi = "10.1002/pd.996",

language = "English",

volume = "25",

pages = "279--82",

journal = "Prenatal diagnosis",

issn = "0197-3851",

publisher = "John Wiley and Sons Ltd",

number = "4",

}

Marcus-Soekarman, D, Hamers, G, Mulder, ALM, Offermans, J, Offermans, J, Engelen, J, van Lent-Albrechts, JCM, Robben, SGF, de Muinck Keizer-Schrama, S, Wolffenbuttel, KP, Looijenga, LHJ, Oosterhuis, JW, Schrander-Stumpel, C & Nijhuis, J 2005, 'Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype', Prenatal diagnosis, vol. 25, no. 4, pp. 279-82. https://doi.org/10.1002/pd.996

TY - JOUR

T1 - Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

AU - Marcus-Soekarman, D

AU - Hamers, G

AU - Mulder, A L M

AU - Offermans, Jeanne

AU - Offermans, Jos

AU - Engelen, J

AU - van Lent-Albrechts, J C M

AU - Robben, S G F

AU - de Muinck Keizer-Schrama, S

AU - Wolffenbuttel, K P

AU - Looijenga, L H J

AU - Oosterhuis, J W

AU - Schrander-Stumpel, C

AU - Nijhuis, J

PY - 2005/4

Y1 - 2005/4

N2 - Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas in counselling. This is illustrated by this case report of a 35-year-old woman, who presented at the end of the second trimester of her first pregnancy. Sonographic examination indicated an abnormal external genital in a male fetus. A differential diagnosis of hypospadia was made. During follow-up, an amniocentesis was performed, and this showed a 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype as the cause of the sonographic findings. Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed.

AB - Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas in counselling. This is illustrated by this case report of a 35-year-old woman, who presented at the end of the second trimester of her first pregnancy. Sonographic examination indicated an abnormal external genital in a male fetus. A differential diagnosis of hypospadia was made. During follow-up, an amniocentesis was performed, and this showed a 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype as the cause of the sonographic findings. Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed.

KW - Abnormalities, Multiple

KW - Adult

KW - Chromosome Banding

KW - Chromosomes, Human, X/genetics

KW - Chromosomes, Human, Y/genetics

KW - Female

KW - Humans

KW - Hypospadias/diagnostic imaging

KW - Infant, Newborn

KW - Isochromosomes

KW - Karyotyping

KW - Male

KW - Mosaicism

KW - Pregnancy

KW - Sex Chromosome Aberrations

KW - Ultrasonography, Prenatal

U2 - 10.1002/pd.996

DO - 10.1002/pd.996

M3 - Article

C2 - 15849784

SN - 0197-3851

VL - 25

SP - 279

EP - 282

JO - Prenatal diagnosis

JF - Prenatal diagnosis

IS - 4

ER -

Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

Abstract

Keywords

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