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- X-CHROMOSOME -
NEOCENTRIC
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(X)mat | UPD(X)pat | UPD(X)mat or pat |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 0X- N- pt22.31/ 1-1 |
female/ newborn |
PBL | de novo | 47,XX,+mar[100%] | inv dup(X)(pter→p22.31: :p22.31→pter) |
midi; telomeric probe | see below | {30; 36} |
| born after spontaneous vaginal delivery at 40 weeks gestation. No history of miscarriages, mental retardation, or congenital defects in family; pregnancy normal. birth weight 2.84 kg. Dysmorphic features: prominent forehead, hypertelorism, down-slanting palpebral fissures, low-set/large ears, flat nasal bridge with anteverted nares and macroglossia. also umbilical hernia, hypotonia, hypermobility of joints, and congenital heart defect including ventricular septal defects, patent foramen ovale with left to right shunt, and persistent left superior vena cava draining into the coronary sinus. developed poor weight gain, gastroesophagial reflux, seizures and had severe developmental delay. At 7 m: height and weight under 5th percentile. At 4 y: only babbling and was unable to roll over. | ||||||||
| 0X- N- p21.1/ 1-1 |
female/ 47y |
PBL | n.a. | 47,XX,+mar[12]/ 46,XX[20] |
der(X)(:p21.1→p11.21: :q11.2→q13.1:) |
midi; cep, wcp XIST | normal female, repeated abortions | {0}
provided from Serbia |
| 0X- N- qt28/ 1-1 |
male/ 13y |
PBL | de novo | 47,XY,+mar[23]/ 46,XY[27] |
inv dup(X)(qter→q28: :p28→qter) aCGH: 152.4-154.5 MB |
aCGH; FISH | see below | {44} |
| At birth, length 52 cm (90th centile), weight 3800 g (90th centile), Apgar 8-9 (1st and 5th minutes respectively). Delayed milestones; at 3 months of age patient developed slight transitory hypertonia in lower extremities. One year later unique febrile seizure during a respiratory infection. Surgical repair of right and left inguinal hernias was carried out at the age of 4 and 6 years, respectively. At 13 years: ataxic gait; weight (70 kg), height (176 cm) head circumference (56.5 cm) >97th centile; facial dysmorphism, increased intercantal distance, large ears, bilateral single palmar crease; language delayed but he is able to make sentences. | ||||||||
| 0X- N- qt28/ 2-1 |
see McCl-0X-W-q27.1/1-1 | |||||||
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other neocentromere X cases (no sSMC)
Kaiser-Rogers KA, Davenport ML, Powell CM, Rao KW
A recombinant X chromosome with an atypical centromere observed in a child with Turner syndrome.
Am J Hum Genet Suppl 57:A658
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 0X- N- p or q/ 1-1 |
- |
- |
- |
- |
- |
- |
- |
- |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 0X- N- IMB- p or q/ 1-1 |
- |
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- |
- |
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