| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 |
---|---|---|---|---|---|---|
<Parthenogenetic mosaicism> | ||||||
Karyotype | 46,XX/46,XY | 46,XX/46,XY/69,XXY | 46,XX/46,XY | 45,X/46,XX | 46,XX/47,XXX | 46,XX |
Parthenogenetic cells | 46,XX | 46,XX | 46,XX | 46,XX | 46,XX | 46,XX |
Non-parthenogenetic cells | 46,XY | 46,XY & 69,XXY | 46,XY | 45,X | 47,XXX | 46,XX |
Frequency of parthenogenetic cells | > 98% (L) | ~ 100% (L) | 0% (L) | 84% (L) | 42% (Amniocytes) | 70% (L) |
< 5% (SF) | ~ 0% (SF) | 45% (SF) | 56% (Saliva) |  | 67% (Saliva) | |
Generation mechanism | PA and ER | Unknown | PA and ER | PA and ER | PA and ER | PB-2 retention and ER |
<Clinical features> | ||||||
Present age | 1.2Â years | Unknown | Unknown | 34Â years | 18Â weeks of gestation | 28Â years |
Phenotypic/social sex | Male | Male | Male | Female | Unknown | Female |
Prenatal growth failure | – | + | Unknown | + | + | + |
Birth length — cm | Unknown | Unknown | Unknown | 44.0 (− 3.1 SD) | … (Fetus) | 42.0 (− 4.6 SD) |
Birth weight — kg | 3.36 (− 0.5 SD) | < 3rd percentile | Unknown | 2.10 (− 2.9 SD) | … (Fetus) | 2.41 (− 3.0 SD) |
Birth OFC — cm | Unknown | 50th percentile | Unknown | 30.5 (− 2.3 SD) | … (Fetus) | Unknown |
Postnatal growth failure | Unknown | – | Unknown | + | … (Fetus) | + |
Present height — cm | Unknown | 25 percentile | Unknown | 125.0 (− 6.2 SD) | … (Fetus) | 146.9 (− 2.1 SD) |
Present weight — kg | Unknown | Unknown | Unknown | 37.5 (− 2.0 SD) | … (Fetus) | 60.4 (+ 0.9 SD) |
Present OFC — cm | Unknown | Unknown | Unknown | 51.2 (− 2.8 SD) | … (Fetus) | 55.6 (− 0.1 SD) |
Intellectual disability | + (Mild) | + (Moderate) | + | + (DQ 56) | … (Fetus) | ±  |
Hypotonia | Unknown | Unknown | Unknown | + | … (Fetus) | + |
Disorder of sex development | + (46,XX DSD) | + (Genital anomalies) | Unknown | – | … (Fetus) | – |
<SRS: Netchine-Harbison scoring system features>[7] | ||||||
Birth length and/or weight ≤  − 2 SDS | – | + (probably) | Unknown | + | … (Fetus) | + |
Relative macrocephaly at birtha | Unknown | + (probably) | Unknown | + | … (Fetus) | Unknown |
Postnatal height (at ~ 2 years) ≤  − 2 SDS | Unknown | – | Unknown | + | … (Fetus) | + |
Prominent forehead (1–3 years) | Unknown | + (probably) | Unknown | + | … (Fetus) | + |
Body asymmetry | + | + | + | + | … (Fetus) | + |
Feeding difficulties and/or low BMI | Unknown | Unknown | Unknown | Unknown | … (Fetus) | + |
Other features | Footnote-1 | Footnote-2 | Footnote-3 | Footnote-4 | Footnote-5 | Footnote-6 |
References | [2] | [3] (Patient 11) | [4] (Patient 30) | [5] | [6] | This patient |