46,XY,t(14p+;15p-).&Chromosome identification by autoradiography.

Aberration: Simple translocation

Variable band

WSi, DSi, ASi, JSi, Ksi, and MSi.

46,XX or XY,14p+.&"46,XY,-14,+der(14)t(?4;14)(?q31;p?)."

Aberration: Marker chromosome

Variable band

Patient A. P., 271282.

mos46,XY,r(14)/45,XY,-14.

The boy was mentally retarded, epileptic, with whitish puncta of the macula, and almond shaped eyes.

Aberration: Ring chromosome

Variable band

46,XX,-14,+t(14;14)(p1;q21).

Ultrasonography at 18 weeks showed marked oligohydramnios with an exomphalos.

Authors think that this the largest distal 14q trisomy reported in a case surviving beyond the first trimester.

Aberration: Simple translocation

Chromosomal Aneuploidy: 14q+

Variable band

Aberration: Marker chromosome

Chromosomal Aneuploidy: 14p-

Index Terms: Satellite III DNA

Variable band

46,XY,del(14)(p1).&46,XY,del(14)(qter -> p1:).

Aberration: Terminal deletion

Variable band

Case 1:

46,XY,13p+ (amniotic fluid, cord blood, and cord fibroblasts).&46,XY,21p+ - Father.

Case 2:

46,XX,15p+(24/30 cells)/46,XX,14p+(6/30 cells).&46,XY,15p+ -father.

Caution is advised in these type of cases especially in prenatal situations.

Aberration: Marker chromosome

Index Terms: Satellites moving,Translocation ... unstable

Variable band

46,XY,t(D or G;14)(p1;p1).&"46,XX,der(D or G)der(14)t(D or G;14)(p1;p1)."

Aberration: Simple translocation

Variable band

46,XX,r(14).&Chromosome identification by autoradiography.

Aberration: Ring chromosome

Variable band

21 cases of t(13;14) and 3 of t(14;21) were studied.

45,XX or XY,der rob(14;21)mat or pat.

All of them were dicentric. Rearrangements tend to occur in satellite III DNA. The findings localize satellite III DNA to the short arm distal to centromeric alpha-repeat DNA and proximal to beta-satellite DNA.

Aberration: TR,DI

Index Terms: Satellite DNA

Variable band

Cases V and I (220673) in this report.

46,XX,r(14).&Both parents had normal chromosomes. The twins, with psychomotor retardation, had no obvious somatic malformations.

Aberration: Ring chromosome

Variable band

mos46,XX,r(14)(13 cells)/45,XX,-14(10 cells) in 10 independent colonies.

Ultrasound at 12 weeks revealed cystic hygroma.

The couple with 5 years of primary infertility had the ICSI procedure. The pregnancy was terminated at 14 weeks.

Aberration: Ring chromosome

Index Terms: Intracytoplasmic sperm injection (ICSI)

Variable band

Patient was 2 1/2 years old.

46,XX,r(14)(p1q32).

Aberration: Ring chromosome

Variable band

46,XX,-14,-22,+der tdic(14p;22p)pat,+21.

See report by Farag et al (1987) under 14p110.

Aberration: Robertsonian translocations

Variable band

Patient, 090575, 18 months old, in this report.

45,XY,-14,-18,+t dic(14;18)(p1;q2).&"45,XY,-14,-18,+t dic(14;18)(14qter -> 14p1::18q22 or 23 -> 18pter)."

Aberration: Dicentric chromosome

Variable band

An inherited 14p+ variant was studied by a number of cytochemical techniques; p+ arm was as long as q arm. Three secondary constrictions were observed. The entire arm stained deeply in N-banded preparations was Q-negative, C-negative, G-negative, and R-positive with an almost homogeneous texture. The difference between N-banding and silver staining was interpreted as the result of gene activities of the ribosomal cistrons.

Variable band

Patient was one year old. Patients with r(14), and there are 7 of them, seem to have focal cerebral atrophy with seizures as their dominant manifestation, together with few minor facial anomalies. It is suggested that abnormalities in the 14 chromosome may result in rather nonspecific central nervous system maldevelopment and dysfunction and raises the possibility that unexplained seizures with minor anomalies and mental retardation may warrant chromosome investigation.

46,XY,r(14).

Aberration: Ring chromosome

Index Terms: Central nervous system ... malformation,Face ... anomalies,Seizures

Variable band

Patients 1 and 2 were brothers.

46,XY,der r(14)mat.&Mother:mos46,XX,r(14)/45,XX,t(14q21q).

There were no clinical manifestations in any of the three individuals.

Aberration: RI,TR

Variable band

Aberration: Marker chromosome

Variable band

46,XY,14ps-.

Propositus No. 10903 in this report.

46,XY,der(14ps-)pat.

Aberration: Marker chromosome

Variable band

Further data on dermatoglyphics, genetic markers, and other clinical details are provided on the same set of twins reported earlier by Jalbert et al, 1977.

Variable band

46,XX,14p+.&46,XY,der(14p+)mat.

Aberration: Marker chromosome

Variable band

Patient T.S., was 5 months old with dolicho- and microcephaly, micrognathia, broad flat nose bridge, light epicanthal folds, low-set malformed ears, ogival palate, drooping mouth, short neck, widely spaced nipples, laxity of skin, and hypertricosis. Deleted portions may be 14p13 to p12 or p11 and 14q32.

Aberration: Ring chromosome

Index Terms: Dolichocephaly,Ears ... low-set malformed,Epicanthal folds,Hypertrichosis,Microcephaly,Micrognathia,Mouth ... drooping,Neck ... short,Nipples ... widely spaced, hypoplastic,Palate ... ogival,Skin ... laxity

Variable band

46,XX,inv(14)(p1q24).&46,XX,rec(14)dup q(q31 -> qter)mat.

Aberration: Inversion pericentric

Variable band

Cases 4-7:

47,XX or XY,+idic(14)(pter->p10::p10->pter)

Aberration: IC,DI

Case 1:

47,XY,+mar.rev ish i(14)(p10) or i(22)(p10) or der(14;22)t(14;22)(p10;p10)de novo.

The infant appears to be normal and the chromosomes were confirmed after birth in a blood specimen.

Aberration: Simple translocation