U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tetragametic chimerism

MedGen UID:
609542
Concept ID:
C0432480
Disease or Syndrome
Synonyms: 46,XX/46,XY chimerism; Chimera 46, XX; 46, XY; tetragametic chimerism
SNOMED CT: Chimera 46, XX; 46, XY (205718006)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016045
Orphanet: ORPHA199310

Definition

A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. [from ORDO]

Term Hierarchy

Recent clinical studies

Etiology

Sheets KM, Baird ML, Heinig J, Davis D, Sabatini M, Starr DB
J Assist Reprod Genet 2018 Feb;35(2):345-352. Epub 2017 Oct 23 doi: 10.1007/s10815-017-1064-6. PMID: 29063500Free PMC Article
Gîngu C, Dick A, Pătrăşcoiu S, Domnişor L, Mihai M, Hârza M, Sinescu I
Rom J Morphol Embryol 2014;55(1):177-81. PMID: 24715185
Verdiani S, Bonsignore A, Casarino L, Ferrari GM, Zia SC, De Stefano F
Int J Legal Med 2009 Sep;123(5):431-5. Epub 2009 Mar 3 doi: 10.1007/s00414-009-0332-0. PMID: 19255770
Drexler C, Glock B, Vadon M, Staudacher E, Dauber EM, Ulrich S, Reisacher RB, Mayr WR, Lanzer G, Wagner T
Transfusion 2005 May;45(5):698-703. doi: 10.1111/j.1537-2995.2005.04304.x. PMID: 15847657
Uehara S, Nata M, Nagae M, Sagisaka K, Okamura K, Yajima A
Fertil Steril 1995 Jan;63(1):189-92. doi: 10.1016/s0015-0282(16)57317-8. PMID: 7805911

Diagnosis

Wimmer R, Neumann U, Weber A, Isau M, Renner-Luetzkendorf H, Zschieschang P, Wachter O, Hirv K, Stumm M
Cytogenet Genome Res 2022;162(7):378-385. Epub 2022 Dec 19 doi: 10.1159/000528737. PMID: 36535241
Magharehabed M, Almadani N, Askari M, Naji M, Akbari A, Gourabi H, Sedighi Gilani MA, Reyhani Sabet F, Masoudi NS, Totonchi M
Andrologia 2019 Aug;51(7):e13290. Epub 2019 Apr 17 doi: 10.1111/and.13290. PMID: 30995699
Gîngu C, Dick A, Pătrăşcoiu S, Domnişor L, Mihai M, Hârza M, Sinescu I
Rom J Morphol Embryol 2014;55(1):177-81. PMID: 24715185
Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, Palmer LS
Urology 2009 Feb;73(2):293-6. Epub 2008 Sep 26 doi: 10.1016/j.urology.2008.08.428. PMID: 18822450
Yunis EJ, Zuniga J, Romero V, Yunis EJ
Immunol Res 2007;38(1-3):213-36. doi: 10.1007/s12026-007-0013-3. PMID: 17917028

Clinical prediction guides

Chen L, Wang L, Zeng Y, Yin D, Tang F, Xie D, Zhu H, Li L, Wang J
BMC Pregnancy Childbirth 2024 Feb 12;24(1):126. doi: 10.1186/s12884-024-06321-5. PMID: 38347456Free PMC Article
Semikhodskii A, Makarova T, Sutyagina D
Eur J Med Genet 2023 Aug;66(8):104799. Epub 2023 Jun 3 doi: 10.1016/j.ejmg.2023.104799. PMID: 37276934
Novotný J, Lotz P, Müller S, Steinlein O
Int J Legal Med 2019 Jul;133(4):989-992. Epub 2018 Sep 24 doi: 10.1007/s00414-018-1914-5. PMID: 30251168
Verdiani S, Bonsignore A, Casarino L, Ferrari GM, Zia SC, De Stefano F
Int J Legal Med 2009 Sep;123(5):431-5. Epub 2009 Mar 3 doi: 10.1007/s00414-009-0332-0. PMID: 19255770
Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, Palmer LS
Urology 2009 Feb;73(2):293-6. Epub 2008 Sep 26 doi: 10.1016/j.urology.2008.08.428. PMID: 18822450

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...