Presentation
ORPHA:199310 Synonym(s): 46,XX/46,XY chimerism Prevalence: - Inheritance: Not applicable or Unknown Age of onset: Infancy, Neonatal ICD-10: Q99.0 OMIM: - UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information [orpha.net]
Mixed fields with anti-B and anti-A B antisera led to the conclusion that blood group B and 0 cell populations were present in a 1:1 ratio. A negative anamnesis for both transplantation and transfusion suggested a chimerism. [ncbi.nlm.nih.gov]
This book presents leading research from around the world in this field which is of interest to so many and presents so many hopes. [books.google.com]
SOURCE Women's Studies Quarterly;Fall/Winter2008, Vol. 36 Issue 3/4, p106 SOURCE TYPE Academic Journal ABSTRACT An essay on how tetragametic chimerism exposes complex links between understanding DNA, human subjectivity, and definitions of motherhood is presented [connection.ebscohost.com]
Entire Body System
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Developmental Delay
delay 60 Excluded (0%) 16 abnormality of the testis 60 Very frequent (99-80%) 17 ambiguous genitalia 60 Very frequent (99-80%) 18 clitoromegaly 60 Very frequent (99-80%) 19 abnormality of the scrotum 60 Very frequent (99-80%) 20 abnormality of cellular [malacards.org]
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Single Transverse Palmar Crease
transverse palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0000954 15 global developmental delay 60 Excluded (0%) 16 abnormality of the testis 60 Very frequent (99-80%) 17 ambiguous genitalia 60 Very frequent (99-80%) 18 clitoromegaly 60 Very [malacards.org]
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Hunting
Urvashi Surti, Lori Hoffner, Marta Kolthoff, Jeanette Dunn, Jennifer Hunt, Lynn Sniezek and Trevor Macpherson, Persistent Gestational Trophoblastic Disease After an Androgenetic/Biparental Fetal Chimera, International Journal of Gynecological Pathology [doi.org]
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Fishing
FISH analysis performed on blood sample showed that 93% of the cells were XX and 7% XY (300 nuclei and metaphases analysed). FISH analysis using Yqh and SRY probes demonstrated a single hybridization signal for each probe (300 cells analysed). [doi.org]
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Multiple Congenital Anomalies
A stillborn male fetus with multiple congenital anomalies was identified to have a (47, XY, 21/47, XX, 12) karyotype [ 10 ]. [bmcmedgenet.biomedcentral.com]
Cardiovascular
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Heart Disease
This book presents recent and important findings on stem cell research which is finding many applications including nervous system diseases, diabetes, heart disease, auto-immune diseases as well as Parkinson's disease, end-stage kidney disease, liver [books.google.com]
Skin
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Hypopigmented Skin
skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053 4 bifid scrotum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000048 5 abnormality of multiple cell lineages in the bone marrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0012145 [malacards.org]
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Skin Patch
[…] show all 20) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028 2 abnormality of the ovary 60 33 hallmark (90%) Very frequent (99-80%) HP:0000137 3 hypopigmented skin [malacards.org]
Urogenital
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Clitoromegaly
HP:0010987 14 single transverse palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0000954 15 global developmental delay 60 Excluded (0%) 16 abnormality of the testis 60 Very frequent (99-80%) 17 ambiguous genitalia 60 Very frequent (99-80%) 18 clitoromegaly [malacards.org]
A 3,625‐g baby was delivered at 37 weeks' gestation with clitoromegaly, prominent labia majora, fusion of the labia, and an orifice of the urogenital sinus. A lymphangioma was noted over the right arm and was excised at age 3 days. [doi.org]
Neurologic
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Screaming
I screamed out in pain as he entered me. I closed my eyes and waited for it to be over. I knew I should be grateful that he was so small. I am sure this would hurt worse if he were my size. But I was not. All I could think of was Alice. [fanfiction.net]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Plastic surgery is the mainstay after gender is assigned, based on genetic sex, gonadal sex, social sex, psychologic sex and patient request Conservative gonadal surgery with long term followup ( J Urol 2007;177:726 ) Case series on surgical treatment [pathologyoutlines.com]
And it may become yet more common, as more people use fertility treatments to conceive their children. [independent.co.uk]
If this could be proven to be true it would go a long way in getting us the treatment and respect we deserve. Anywho, it's just a thought. LUV Jean [transgenderpulse.com]
The twin pregnancy occurred after infertility treatments with clomiphene citrate (Clomid ). At our centre, a second amniocentesis as well as a cordocentesis was performed at 25 weeks' gestation. [doi.org]
Etiology
Fusion as the etiology of chimerism in monochorionic dizygotic twins. Fetal Diagnosis and Therapy, 20, 20 – 22. Hack, K. E., Derks, J. B., Elias, S. G., Franx, A., Roos, E. J., Voerman, S. K.,. .. Visser, G. H. ( 2008 ). [cambridge.org]
166 - 169 ) A human parthenogenetic chimaera, Nat Genet, 1995, vol. 11 2 (pg. 164 - 169 ) Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY, Fertil Steril, 1995, vol. 63 (pg. 189 - 192 ) Chimerism as the etiology [doi.org]
Epidemiology
Definition / general Ovarian and testicular tissue in the same individual (either bilateral or unilateral ovatestes or separate testis and ovary) with or without abnormal genitalia Epidemiology Very rare, with only about 500 cases identified worldwide [pathologyoutlines.com]
Prevention
Many believe this may play a role in preventing the mother’s immune system from rejecting the fetus. Having the mother’s own immune system recognize the child’s DNA as something native may be key in preventing a graft-versus-host type of scenario. [medicalbag.com]
For instance, the government has built an enormous DNA database around a specific kind of DNA test, and sunken costs prevent laboratories from instantly converting to the latest in testing instrumentation. [thedailybeast.com]
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 1998, Baltimore, MD: Johns Hopkins University, 179 Google Scholar Copyright Lee et al.; licensee BioMed Central Ltd. 2012 [bmcmedgenet.biomedcentral.com]