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Table 2 Clinical indications of 41 cases referred for spectral karyotyping

From: Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Case number Sex Age Type of Study Result Clinical indication
F0414116 M Prenatal Prenatal (AF) der(1) Supernumerary mosaic marker found elsewhere at amniocentesis, Parental chromosome studies reported as normal (studied elsewhere)
F0425680 F Prenatal Prenatal (CVS) der(2) Advanced maternal age
F0439968 M 1Y Neonatal r(2) Developmental delay
F0533491 F 10Y Postnatal der(2) Short stature, Pituitary dwarfism
F0549217 M 19M Postnatal der(2) Delayed milestones, Multiple congenital anomalies
F0613262 M 2Y Postnatal der(3) Developmental delay
F0732043 M 2Y Postnatal der(3) Delayed milestones
F043725 M 2Y Postnatal der(7) Prenatal ultrasound with an unspecified kidney abnormality; AF study with a result of 47,XY+mar[3]/46,XY[27]
F0451268 M 1Y Neonatal r(8) 47,XY,+r/46,XY (diagnosed elsewhere)
F0633932 M 2Y Postnatal der(9) Developmental delay
F0713569 F 6M Neonatal i(9)(p10) Macroglossia
F0716379 F 11Y Postnatal der(9) Velocardiofacial (VCF) phenotype; NF1 diagnosis; Congenital cataract, Developmental delay, Abnormal aortic valve
F0646031 F Prenatal Prenatal (AF) der(12) Advanced maternal age
F0445519 M 2Y Postnatal der(14 or 22) Developmental delay
F0519414 F 12Y Postnatal der(14 or 22) Ataxia; Rule out 47,XXX
F058133 M Prenatal Prenatal (AF) der(15) Advanced maternal age; Amniocentesis study had a result of 47,XY,+mar[8]pat/46,XY[2]
F0554133 F 12Y Postnatal der(15) Short stature
F0621647 F 12Y Postnatal r(15) Previous study performed elsewhere
F0642559 F 3Y Postnatal psu idic(15) Rule out SRY deletion
F0658799 M 6Y Postnatal idic(15) Pervasive developmental disorder
F077829 M 25Y Postnatal der(15) Infertility
F047204 F 33Y Postnatal r(16) Multiple miscarriages
F0548089 F 2M Neonatal der(16) Prenatal karyotype of 47,XX,+mar[7]/46,XX[12] (performed elsewhere)
F0616779 F 2Y Postnatal r(16) Seizures
F0751841 F Prenatal Prenatal (AF) der(16) Advanced maternal age
F04635 F 7Y Postnatal der(18) Previous blood study showed mosaicism for a small marker chromosome
F0528563 M 2M Neonatal der(18) Multiple congenital anomalies; A ring chromosome detected at prenatal diagnosis
F077572 F Prenatal Prenatal (AF) der(18) Mosaic fetal karyotype of 47,XX,+mar[8]/46,XX[7] reported elsewhere; Advanced maternal age
F0534481 F 35D Neonatal der(19) Amniotic fluid study had a karyotype of 47,XX,+mar
F0628560 F 2Y Postnatal r(19) Multiple congenital anomalies
F0642312 F 12Y Postnatal der(19) Rule out Fragile × syndrome
F0549359 N/G 10Y Postnatal der(20) Developmental delay, Autism
F0819257 F 8Y Postnatal der(20) Mental retardation/developmental delay, Trigonocephaly
F067630 F 11Y Postnatal r(21) Dermatitis, Acquired acanthosis nigricans
F0535997 M 35Y Postnatal der(22) Unspecified anterior pituitary hyperfunction, Chronic lymphocytosis, Thyroiditis, Hirsutism, Celiac disease, Disorders of iron metabolism.
F0560040 F 27Y Postnatal dic(22) Bone marrow aspirate: agranulocytosis, neutropenia and borderline anemia; Blood specimen: agranulocytosis; To rule out a constitutional marker chromosome
F0636127 M 1Y Postnatal der(22) Developmental delay
F0636122 M N/G Postnatal der(22) Rule out Trisomy 13
F0646601 F 11Y Postnatal idic(22) Delayed milestones, Multiple congenital anomalies
F0845840 F 1D Neonatal der(22) Microcephaly
F0851097 F 20Y Postnatal der(22) Congenital heart defect