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Table 1 Karyotype and clinical presentation of individuals reported with a supernumerary analphoid inversion-duplication 3q marker chromosome

From: Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Case no. Karyotype Clinical features References
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]
  1. (PBL = peripheral blood lymphocyte culture)