Table 1 |
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Karyotype and clinical presentation of individuals reported with a supernumerary analphoid inversion-duplication 3q marker chromosome |
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| Case no. |
Karyotype |
Clinical features |
References |
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| 1 |
47,XY,+der(3) inv dup(3)(qter-q22.3::q22.3-qter) in dark skin fibroblast only (87%) 46,XY (in PBL & light skin) |
Lumbosacral maningeocele, mental retardation, sparse hair, short limbs, hypoplasia
of digital phalanges, agensis of nails and clinodactyly of fifth finger, ambiguous
genitalia, depressed nasal bridge, anteverted nostrils lines of Blaschko, severe developmental
delay. |
[12,19] |
| 2 |
47,XX,+der(3) inv dup(3)(qter-q25.33::q25.33-qter) in skin fibroblast only (100%) 46,XX (PBL) |
Multiple congenital anomalies, prominent hairy forehead, low set ears, micrognathia,
postaxial polydactyly of left hand, depressed nasal bridge, short nose, lines of Blaschko,
sub arortic VSD, pulmonary hypertension, tail-like sacrococcygeal appendage, hypoplasia
of corpus callosum. |
present case |
| 3 |
47,XY,+der(3) inv dup(3)(qter-q26.2::q26.2-qter) in skin fibroblast (57%) |
Abortus with high arched palate, postnuchal edema, single transverse palmer crease
on rt. hand lumbosacral myelomengiocele, Arnold-Chiari malformation, asymmetry of
the kidneys, renal dysplasia. |
[13,19] |
| 4 |
47,XY,+der(3) inv dup(3)(qter-q26.2::q26.2-qter) in skin fibroblast (88%) in PBL (2.5%) |
Enlargerd kidney, streaky hypopigmentation of skin, wide open anterior and posterior
fontanel, rt preauricular pit, accessory nipples, postaxial polydactyly, clinodactyly
of 5th finger, rocker bottom feet, seizures, duplication of rt kidney, right pulmonary srtery
stenosis, developmental delay. |
[14,19] |
| 5 |
47,XY,+der(3) inv dup(3)(qter-q26.2::q26.2-qter) in skin fibroblast 46,XY (PBL) |
Mild developmental delay, attention-deficit hyperactivity, asymmetry of hands and
legs, lines of irregular skin pigmentation consistent with the lines of Blaschko,
macrocephaly. |
[15,19] |
| 6 |
47,XX,+der(3) inv dup(3)(qter-q26.2::q26.2-qter) in skin fibroblast (24%) 46,XX (PBL) |
Skeletal abnormalities, limb stiffness, abnormal skin pigmentation, developmental
delay. |
[16,19] |
| 7 |
47,XY,+der(3) inv dup(3)(qter-q27.1::q27.1-qter) in dark skin fibroblast (6%) in PBL (30%) 46,XY (100% in light skin) |
22 year old man, normal intelligence, onset of pigmentary anomalies at age 10–12 years,
lines of Blaschko, otherwise healthy and not dysmorphic. |
[17,19] |
| 8 |
47,XX,+der(3) inv dup(3)(qter-q27.2::q27.2-qter) in PBL (71%) |
Swirly areas of hyperpigmentation, bilateral preauricular pits, hypotonia, developmental
delay, seizures. |
[14,19] |
| 9 |
47,XX,+der(3) inv dup(3)(qter-q28::q28-qter) (100% in PBL) |
Marked developmental delay, Hypognathia, atypical epicanthus, slight hirsutism, bilateral
icthyosiform hyperkerotosis of palms and sole, hypotonia, hyporeflexia, cannot speak
properly. |
[18,19] |
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(PBL = peripheral blood lymphocyte culture) |
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Murthy et al. Molecular Cytogenetics 2008 1:19 doi:10.1186/1755-8166-1-19 |
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