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 |