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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