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- CHROMOSOME #8 -
NEOCENTRIC
In general 70% of sSMC carriers are clinically normal. The figures listed above
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(8)mat | UPD(8)pat | UPD(8)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 |
| 08- N- pt23.3/ 1-1 |
female/ 16y |
PBL | de novo | 47,XX,+mar[15]/ 46,XX[5] |
inv dup(8)(pter→p23.3: :p23.3→pter) |
pan centromeric probe; midi; locus-specific probes in 8p23 |
see below | {31; 36; 37; 47; 71} |
| Patient born after a 32-week pregnancy and uncomplicated vaginal delivery. The mother reportedly drank six to seven quarts of beer per day for two to three years and throughout the pregnancy and smoked one to two packs of cigarettes per day. She also had a psychiatric history, including treatment with trifluoperazine and chlorpromazine. Birth weight 1510 g, APGAR 7/8/-. Gavage feeding was needed for poor suck. At 20 days weight 1720 g, length 43 cm, OFC 29 cm (all <5th centile), increased hair on the forehead, camptodactyly of 5th fingers, rocker bottom feet, hypertonia with tight fisting of hands and limited extension of the elbows, knees, and hips. Weight and height were below the 5th centile throughout development. At 2-3/12 y small skull. Developmental delayed. Psychological testing at 5 y full-scale IQ score of 45 (verbal 52; performance 40; Wechsler Preschool and Primary Scale of Intelligence); moderate mental retardation; difficult to control, aggressive, and having an attention deficit at age 12-11/12. At15-5/12 y mild prominence of the ventricles; persistent spasticity in the lower limbs, with tight hamstring muscles and heel cords. Facial hirsutism at 13 y with onset of puberty; MRI at 15-2/12 y showed elongated ovaries containing multiple cysts dispersed throughout; at 15-1/12 y drooping eyelids, double vision, bumping into objects, some difficulty swallowing; Examination in the Genetics Clinic at age 15-9/12 showed: weight 41.4 kg (<5th centile; 50th centile for 12 years), height 131 cm (<5th centile; 50th centile for 7-1/2 years), OFC 56 cm (75th centile), inner canthal distance 3.2 cm (75-97th centile), ears 4.7 cm (<3rd centile; 50th centile for 9 months), hands 14.5-15 cm (<3rd centile; 50th centile for 9 years), palms 9 cm (3rd centile), and feet 19.5-20 cm (<3rd centile; 50th centile for 8 years). Facial hair was increased. There were contractures of the second, third, fourth, and fifth digits of mainly the right hand. At 16 y, persistent ptosis | ||||||||
| 08- N- pt23.2~23.1/ 1-1 |
male/ prenatal |
AF/PBL | de novo | 47,XY,+mar[7]/ 46,XY[18] mar in 21% of PBL |
inv dup(8)(pter→p23.2~23.1: :p23.2~23.1→pter)* |
M-FISH, all telomeres; sub-telomere 8p, 8p22 specific probe | Detected prenatally due to AMA; as ultrasound was normal pregnancy was continued; at 2y2m boy was physically and developmentally normal | {39} case 2 {71} |
| 08- N- pt23.1/ 1-1 |
male/ 30y |
PBL | de novo (maternal? 8%) |
47,XY,+mar[90%]/ 46,XY[10%] mar in 100% in fibroblasts |
inv dup(8)(pter→p23.1: :p23.1→pter) |
M-FISH, sub telomere 8p; all telomeres, all ceps | mild MR and inappropriate sexual behavior, mild dysmorphism with long face and high arched palate, DD. | {38; 71}identical with ?{26; 36; 47} unpublished case in Tab. II |
| 08- N- pt23.1/ 1-2 |
female/ 2y |
PBL | de novo | 47,XX,+mar[100] | inv dup(8)(pter→p23.1: :p23.1→pter) |
midi; locus-specific probes in 8p23.3 and 8p22~23.1 |
see below | {27; 28; 36; 47; 71} |
| pregnancy uneventful, delivery premature due to rupture of embryonic membrane; birth weight 2035g; 2w after birth heart murmur due to patent ductus arteriousus with pulmonary hypertension; At 2.25y weight 11.72kg, HC 50.2cm, length 86cm; broad forehead, developmental delay | ||||||||
08- N- pt23.1/ 1-3 |
male/ 8y |
PBL | de novo | 47,XY,+mar[100] | inv dup(8)(pter→p23.1: :p23.1→pter) |
pan centromeric probe; midi; locus-specific probes in 8p23 | Referred at 8 y for DD with no obvious dysmorphic features. Observed to be good at sports but no other information regarding the patient could be obtained. | {30} case 2 {36; 47; 71} |
| 08- N- pt23.1/ 1-4 |
male/ 23y |
PBL | de novo | 47,XY,+mar[25%]/ 46,XY[~75%] |
inv dup(8)(pter→p23.1: :p23.1→pter) |
midi, wcp-FISH | feminine stature, small testes, recurrent bone fractures, kyphosis, recurrent myocarditis, mentally normal | {46; 71} |
| 08- N- pt23.1/ 1-5 |
n.a./ n.a. |
n.a. | n.a. | n.a. | inv dup(8)(pter→p23.1: :p23.1→pter) |
n.a. | n.a. | {47} |
| 08- N- pt23.1/ 1-6 |
male/ 11y |
PBL | de novo | 47,XY,+mar[~40%]/ 46,XY[~60%] |
inv dup(8)(pter→p23.1: :p23.1→pter) |
pan centromeric probe; midi; locus-specific probes in 8p23 | see below | {30} case 1 {36; 47; 71} |
| first referred at 2 months of age for failure to thrive, no palpable testis, bilateral inguinal hernia; born at term by emergency caesarean section after arrested breech; heart murmur at birth - later found to be patent ductus arteriousus; microphallus, bilateral undescended testes, bilateral inguinal hernia, recurrent bronchiolitis, milk allergy and asthma. At age 2 years and 6 months height below 3rd centile; weight between 3rd and 10th centile. At age 9 Attention Deficit Hyperactivity Disorder; below average intellectual ability. At 13y, short stature (below 3rd centile), delayed puberty, continued behavioral problems, IQ of 75. | ||||||||
| 08- N- pt23.1/ 1-7 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[?%] | inv dup(8)(pter→p23.1: :p23.1→pter) |
n.a. | n.a. | {75} |
| 08- N- pt23.1/ 1-8 |
female/ 20m |
PBL |
pat (low mosaic) |
47,XX,+mar[100%] | inv dup(8)(pter→p23.1: :p23.1→pter) aCGH (hg19) on sSMC: 2 copies: 0-7.07 Mb 1 copy: 8.09-11.90 Mb |
aCGH | DD; father normal | {0} |
| 08- N- pt23.1/ 2-1 |
female/ 4y |
PBL | de novo | 47,XX,+mar[100%] | der(8)(pter→p23.1::p23.3→p23.1:) array: 0.0-6.79MB |
FISH aCGH |
clinically abnormal | {0} provided from Germany |
| 08- N- pt23/ 1-1 |
female/ postnatal |
PBL | n.a. | 47,XX,+mar[21]/ 46,XX[6] |
inv dup(8)(pter→p23::p23→pter)[7]/ r(8)(::pter→p23::)[8]/ min(8)(pter→p23:)[6] |
CGH, aCGH; MCB | slight MR | {101} |
| 08- N- pt23/ 1-2 |
male/ 8y |
PBL | n.a. | 47,XY,+mar[?]/ 46,XY[?] |
inv dup(8)(pter→p23::p23→pter) | MCB, subtel |
DD, MR |
{125, case 2} |
| 08- N- pt23/ 1-2 |
n .a./ postnatal |
PBL | n.a. | 47,XN,+mar[?100%] | inv dup(8)(pter→p23::p23→pter) | FISH | n.a. | {102} |
| 08- N- pt22/ 1-1 |
female/ prenatal |
AF/ PBL |
de novo | 47,XX,+mar[3]/ 46,XX[14] mar in 50% of PBL |
inv dup(8)(pter→p22: :p22→pter) |
midi, band-specific probes | see below | {45; 71} |
| Amniocentesis due to AMA. Patient born at week 41 after normal pregnancy; Birth weight: 3410g, APGAR 9/10; no dysmorphism seen at birth. At 8m minor epicanthal fold on the left side and hemangiomas on right temple. No DD | ||||||||
| 08- N- pt22/ 1-2 |
n.a./ n.a. |
n.a. | n.a. | n.a. | inv dup(8)(pter→p22: :p22→pter) |
n.a. | n.a. | {47} |
| 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 |
| 08- 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 |
| 08- N- IMB- p23/ 1-1 to 1-48 |
48 case with partial trisomy 8p are summarized in Ref {68} - also see {72-73} see also {77} |
{68} | |||||
| 08- N- IMB- q23/ 1-1 |
1 case with 3y
dysmorphic, mental retardation, hyperekplasia see also {80} |
{76} | |||||
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