an exception to this is when the new mutation occurs early in germline development, leading to gonadal mosaicism. (HIM.395)

WordNet

a gland in which gametes (sex cells) are produced (同)sex gland
of or relating to the gonads; "gonadal hormones"
the condition in which an organism has two or more cell populations that differ in genetic makeup

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/14 18:33:39」(JST)

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1. 遺伝性疾患の基本原則 basic principles of genetic disease
2. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects
3. 性染色体異常 sex chromosome abnormalities
4. 産科におけるアレイ比較ゲノムハイブリダイゼーション（aCGH）の利用 use of array comparative genomic hybridization acgh in obstetrics
5. 外陰部異常を有する幼児の評価 evaluation of the infant with ambiguous genitalia

Phalen A, Akhavan A, Hall SJ.SourceDepartment of Urology, Mount Sinai School of Medicine, New York, New York.
Urology.Urology.2012 Jan 12. [Epub ahead of print]
Mixed gonadal dysgenesis is a disorder of sexual differentiation, characterized by mosaicism, ambiguous external genitalia, and both Wolffian and Müllerian internal genitalia. These patients are at a known increased risk of germ cell cancer, specifically gonadoblastoma; however, in this report we d
PMID 22245297

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X.SourceDepartment of Pediatrics, Peking University First Hospital, Beijing, 100034 P. R. China Department of Pediatrics, FengTai Hospital, Beijing, 100071 P. R. China Department of Pediatrics, Maternal and Child Health Hospital of Huaian, Jiangsu, 223002 P. R. China Centre for Child Health Research, University of Western Australia, Perth, Western Australia Neurogenetics Unit, Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia Telethon Institute for Child Health Research, University of Western Australia, Perth, Western Australia School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia.
Clinical genetics.Clin Genet.2011 Dec 19. doi: 10.1111/j.1399-0004.2011.01838.x. [Epub ahead of print]
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with familial cases rare. The aims of this study were to provide a precise estimate of the parental origin of MECP2 mutations using a large Chinese sample and to assess whether parental origin
PMID 22182064