Abstract
Background: Mayer–Rokitansky–Küster–Hauser syndrome (MRKH; Online Mendelian Inheritance in Man #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for most patients, although the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (Online Mendelian Inheritance in Man #611913) is a well known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects. Case: Herein we report a patient with 16p11.2 recurrent microdeletion in whom MRKH syndrome was diagnosed in adolescence. Summary and Conclusion: Our purpose is to underscore the possible presence of gynecological malformations in patients with 16p11.2 microdeletion and highlight the utility of a genetic evaluation in cases of MRKH syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 533-535 |
| Journal | Journal of Pediatric and Adolescent Gynecology |
| Volume | 31 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 2018 |
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Keywords
- 16p11.2 microdeletion
- Mayer–Rokitansky–Küster–Hauser syndrome
- MRKH syndrome
- Müllerian aplasia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Obstetrics and Gynaecology
Cite this
Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion : A Case Report and Review of the Literature. / Gatti, Marta; Tolva, Gianluca; Bergamaschi, Silvia; Giavoli, Claudia; Esposito, Susanna; Marchisio, Paola; Milani, Donatella.
In: Journal of Pediatric and Adolescent Gynecology, Vol. 31, No. 5, 2018, p. 533-535.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion
T2 - A Case Report and Review of the Literature
AU - Gatti, Marta
AU - Tolva, Gianluca
AU - Bergamaschi, Silvia
AU - Giavoli, Claudia
AU - Esposito, Susanna
AU - Marchisio, Paola
AU - Milani, Donatella
PY - 2018
Y1 - 2018
N2 - Background: Mayer–Rokitansky–Küster–Hauser syndrome (MRKH; Online Mendelian Inheritance in Man #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for most patients, although the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (Online Mendelian Inheritance in Man #611913) is a well known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects. Case: Herein we report a patient with 16p11.2 recurrent microdeletion in whom MRKH syndrome was diagnosed in adolescence. Summary and Conclusion: Our purpose is to underscore the possible presence of gynecological malformations in patients with 16p11.2 microdeletion and highlight the utility of a genetic evaluation in cases of MRKH syndrome.
AB - Background: Mayer–Rokitansky–Küster–Hauser syndrome (MRKH; Online Mendelian Inheritance in Man #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for most patients, although the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (Online Mendelian Inheritance in Man #611913) is a well known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects. Case: Herein we report a patient with 16p11.2 recurrent microdeletion in whom MRKH syndrome was diagnosed in adolescence. Summary and Conclusion: Our purpose is to underscore the possible presence of gynecological malformations in patients with 16p11.2 microdeletion and highlight the utility of a genetic evaluation in cases of MRKH syndrome.
KW - 16p11.2 microdeletion
KW - Mayer–Rokitansky–Küster–Hauser syndrome
KW - MRKH syndrome
KW - Müllerian aplasia
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UR - http://www.scopus.com/inward/citedby.url?scp=85048341550&partnerID=8YFLogxK
U2 - 10.1016/j.jpag.2018.04.003
DO - 10.1016/j.jpag.2018.04.003
M3 - Article
AN - SCOPUS:85048341550
VL - 31
SP - 533
EP - 535
JO - Journal of Pediatric and Adolescent Gynecology
JF - Journal of Pediatric and Adolescent Gynecology
SN - 1083-3188
IS - 5
ER -