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- CHROMOSOME #10 -
NEOCENTRIC
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(10)mat | UPD(10)pat | UPD(10)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 |
| 10- N- pt15~ 14/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup (10)(pter→p15~14: :p15~14→pter) |
CGH; subtelomere probes 10p and 10q | AMA; normal in ultrasound; pregnancy terminated; no abnormalities in necropsy | {5; 17; 22; 26} |
| 10- N- q11/ 1-1 |
see McCl-10-N-q11/1-1 | |||||||
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see also 10-Ud-1
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other neocentromere 10 cases (no sSMC): Voullaire LE, Slater HR, Petrovic V, Choo KH. A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere? Am J Hum Genet. 1993 Jun;52(6):1153-1163 → see as well case W-p11.23 |
| 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 |
| 10- N- p or q/ 1-1 |
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| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 10- N- IMB- p12.1/ 1-1 |
female/ prenatal |
AF | n.a. | 46,XX,der(10)(:p12.1→p15.3::p15.3→qter) | aCGH | AMA; TOP | {52} |
| 10- N- IMB- p14/ 1-1 |
female/ newborn |
PBL | de novo | 46,XX,der(6)t(6;10)(p25;p14) | CGH, wcp 6, wcp 10 | see below | {24} |
| Born after uneventful twin pregnancy of 37 weeks. Delivery by cesarean section. Birth weight 2630 g, length 46 cm, and head circumference 34cm. Her twin, a boy, did not present with any anomaly. She showed hypotonia and for faintness after a meal, a mild facial dysmorphic, associating hypertelorism and upslanting palpebral fissures. The skin and hair were pale and blond, respectively, while the parents, had a matt complexion. Magnetic resonance imaging (MRI) of the head showed a corpus callosum agenesis. The difficulty in eating and a gastro esophageal reflux were due to a glottis stenosis. Development at 8 months was delayed. She was 63 cm tall and weighed 6100 g (<2 SD), head circumference was normal at 44.5 cm. An important psychomotor retardation was noted. There was significant hypotonia. At this age, craniofacial dysmorphic was evident, including hypertelorism, a large nose, a pronounced philtrum, thin lips and low set ears, an abnormal pallor compared to her family. | |||||||
| 10- N- IMB- p14/ add. cases |
see {31} | {31} | |||||
| 10- N- IMB- q24/ 1-1 |
female/ 11y |
PBL | de novo | 46,XX,dup or trp(10)(q26qter) | YAC probes | see below | {28} |
| Fetal movements reduced during pregnancy. Born at term, birth weight of 3800 g (50th-75th centile), length 50 cm (25th-50th centile), head circumference 35 cm (25th-50th centile). Mild distal arthrogryposis of the hands. Development delayed; walked at 20 months, is first words at 5 years. At 11 years 8 months, weight 35.2 kg (25th-50th centile), length 153 cm (75th-97th centile), head circumference 53.8 cm (50th-75th centile). Minor facial anomalies, with midface hypoplasia, flattened forehead with a high anterior hairline, central anterior cowlick, and narrow palpebral fissures. Outer canthal distance 9.3 cm (75th centile), inner canthal distance 3.1 cm (50th-75th centile). Ears prominent with poorly folded helices. Hypertrophic gingival, ventral placement of the maxillary canine teeth. A large gap between first and second toes. Hypotonic with open mouth and reduced facial expression, hypermobile elbow joints, high, arched palate, and a lumbar scoliosis. Distal arthrogryposis of the hands with flexion contractures at the proximal interphalangeal joints of the second to fifth fingers. The thumbs showed absence of flexion at the metacarpophalangeal joints. He has moderate mental retardation, with an intelligence quotient of 46 on the Terman scale, at the age of 5.5 years. | |||||||
| 10- N- IMB- q26/ 1-1 to 1-3 |
5 cases with trisomy 10qter see also {34} |
{29} 5 cases | |||||
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