mos46,XX,t(9;18)(p24;q21)/47,XX,+der(18)t(9;18)(p24;q21).&"47,XX,+der(18)t(9;18)(p24;q21)mat."&The dysmorphic features were bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes.

Aberration: Simple translocation

Index Terms: Clinodactyly,Ears ... low-set,Epicanthal folds,Hairline ... posterior, low,Toes ... great

Negative band

Willett-Brozick and Savul et al describe a novel 41-bp mtDNA insertion at the chromosome 9 breakpoint.

A five generation pedigree with bipolar disorder and the translocation is presented.

46,XX and XY,t(9;11)(p24;q23.1)

Linkage marker analyses at the two breakpoints is being carried out.

Aberration: Reciprocal translocation

MIM#: 125480

Index Terms: Bipolar affective disorder

t(9;10)(p24;q24); t(9;13)(p24;q22); t(9;18)(p24;q21).

Aberration: Reciprocal translocation

Negative band

46,XY,t(9;10;18)(p24;q24;q21).&"46,XY,-9,+der(9)t(9;10;18)(p24;q24;q21)pat."

Aberration: Complex translocation

Negative band

46,XY,t(9;16)(p24;q13).&"46,XX,-9,+der(9)t(9;16)(9qter -> 9p24::16q13 -> 16qter)pat."&The proband, who died after 8 days, had multiple congenital anomalies.

Aberration: Simple translocation

Negative band

46,XX,r(9)(p24q34).&46,XX,der r(9)(p24q34)mat.&The mother''s ring chromosome appears to be a de novo mutation with few, if any, phenotypic abnormalities. Whereas the daughter appears to have inherited the same ring chromosome and has short stature, microcephaly associated with mental retardation. It is rare that a ring chromosome is transmitted from a parent to an offspring.

Aberration: Ring chromosome

Index Terms: Microcephaly,Stature ... short (low)

Negative band

46,XX and XY,inv(9)(p24q13)

Three brothers and two single sisters were carriers.

Aberration: Inversion pericentric

No band

46,XY,del(9)(p24)de novo.,46,XX,der(9)t(9;16)(p24;q24)de novo.

Aberration: TD,ST

Chromosomal Aneuploidy: 9p-

No band

46,XX,t(9;16)(p24;q13).&"Patient:46,XX,-9,+der(9),t(9;16)(9qter -> 9p24::16q13 -> 16qter)mat."&"Uncle:46,XY,-16,+der(16),t(9;16)(16pter -> 16q13::9p24 -> 9pter)."

Data are presented on the phenotypic characteristics of the aneuploidy conditions: 9p and 16q monosomy and trisomy.

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 9p- and +.,16q- and +.

Negative band

Father:mos46,XY,inv(9)(p24q34.1)25% in blood/46,XY(75%).,Proband:46,XX,rec(9)dup(9q)inv(9)(p24q34.1)pat.

The patient was evaluated at the age of 6 months because of dysmorphic features and developmental delay.

Aberration: PI,RE

Chromosomal Aneuploidy: 9p-;9q+

46,XY,t(9;10)(p24;q22).&"46,XY,-9,+der(9)t(9;10)(9qter -> 9p24::10q22 -> 10qter)pat."

Aberration: Simple translocation

Negative band

Patient, BB, a 10 month old girl, was being evaluated for a familial chromosome translocation.

Patient=46,XY,der(9)t(8;9)(p21;p24)pat.,Father and an uncle=46,XY,t(8;9)(p21;p24).

Female external genitalia, normal vagina and uterus, streak gonads, and bilateral gonadoblastoma was found.

Paternal grandparents had normal karyotypes.

Aberration: Reciprocal translocation

MIM#: 273350

Chromosomal Aneuploidy: 9p-

Index Terms: Sex reversal,Gonadal dysgenesis

Case L (240173) in this report.

46,XX,r(9)(p24q34).

Aberration: Ring chromosome

Negative band

46,XX,t(9;18)(p24;q21).&"46,XY,-9,+der(9)t(9;18)(9qter -> 9p24::18q21 -> 18qter)mat."

Aberration: Reciprocal translocation

Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)

Negative band

Case 1767, M. R. F. was 32 years old.

46,XX,t(9;11)(pter;q21).

Aberration: Simple translocation

Negative band

A 3 1/2 year old patient.

45,XY,-9,-15,+t(9;15)(p24;q11).&"45,XY,-9,-15,+t(9;15)(9qter -> 9p24::15q11 -> 15qter)."

Aberration: Simple translocation

Index Terms: Prader-Willi ... Critical Region (PWCR)

Negative band

Five patients were studied.

SV=46,XY,-9,+der(9)t(7;9)(q21.1;p24)mat.,RB=46,XY,-9,+der(9)t(2;9)(p11;p24)de novo.,B=46,XY,del(9)(p23.05)de novo.,TO=46,XY,del(9)(p23p24.3)de novo.,GG=46,XY,del(9)(p23)de novo.

Aberration: Terminal deletion

MIM#: 273350

Chromosomal Aneuploidy: 9p-

46,XY,inv(9)(p24q12).&46,XY,inv(9)(pter -> p24::q12 -> p24::q12 -> qter).

Aberration: Inversion pericentric

Negative band

46,XX,r(9)(p24q34).

Patient was 25 years old with mental retardation and "socially inappropiate behavior".

The phenotype was consistent with that of Prader-Willi syndrome.

Aberration: Ring chromosome

MIM#: 176270

Negative band

46,XX,t(9;12)(9qter->9p24::12p11->12pter;,12qter->12p11::9p24->9pter).

The 2-2/3-year-old patient in this report.

46,XX,der(9)t(9;12)(p24;p11)mat.,The features of 12p trisomy syndrome appear to be psychomotor retardation, hypotomus, peculiar flat facies with prominent cheeks, epicanthic folds, broad eyebrows, broad and flat nasal bridge with short and narrow nose, anteverted nostrils large philtrum, broad and prominent lower lip, low-set ears with broad helix, prominent antihelix and deep concha, short neck, simian creases, bilateral genu valgum, increased space betweed first and second toes, hyporeflexia of knees and ankles and retarded bone age.

Aberration: Reciprocal translocation

Index Terms: Antihelix,Ears ... antihelix (prominent),Ears ... broad helix,Ears ... deep concha,Ears ... low-set,Epicanthal folds,Eyebrow ... broad,Facial dysmorphism,Genu valgum,Knee ... genu valgum,Lips ... broad lower,Neck ... short,Philtrum ... large,Toes ... widely spaced

Negative band

Patient died 9 days after birth with malformed upper extremities and congenital heart disease.

46,XY,r(9)(p24q34).

Aberration: Ring chromosome

Index Terms: Congenital heart defects (cardiovascular anomalies)

Negative band

Patient 1: Deletion 10q26.1 to 10qter. 10q26.2 and 10q26.3 were deleted (de novo). Case reported by Turleau et al, Hum. Genet. 47:233, 1979 and Junien et al, Ann. Genet. 22:50-52, 1979.

Patient 2, was 30 months old, part 10q25 may be present also.

46,XX,t(9;10)(p24;q26).&"46,XX,-9,+der(9)t(9;10)(9qter -> 9p24::10q26 -> 10qter)mat."

Aberration: Simple translocation

Negative band

46,XX and XY,der(9)der(14)rcp(9;14)(p24;q21)mat.

46,XX,rcp(9;14)(p24;q21).&"46,XX,rcp(9;14)(9qter -> 9p24::14q21 -> 14qter;14pter -> 14q21::9p24 -> 9pter)."

Four patients JC, EC, DT and TC in this report.

47,XX or XY,+der(14)rcp(9;14)(p24;q21)mat.&Nucleoside phosphorylase activity was measured in patient DT which supports the assignment of NP locus -> 14q13.

Aberration: Reciprocal translocation

Negative band

7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases.

46,XX,der(9)t(9;16)(p24;q24)de novo

The size of 16q+ is estimated to be >36cM and maternal in origin.

46,XY,del(9)(p24)de novo

The deletion size is estimated to be 10.4-14.5cM and paternal in origin.

Aberration: Terminal deletion

Chromosomal Aneuploidy: 9p-

46,XY,-9,+der(9)t(9;13)(p24;q32.3)pat.

Aberration: Simple translocation

Negative band

The mother was 22 years old.

46,XX,t(9;18)(p24;q21).&"46,XY,der(18),t(9;18)(p24;q21)iedel(18)(q21 -> qter)mat."

Aberration: Simple translocation

Chromosomal Aneuploidy: 18q-

Negative band

Patient WC, at age 7 years, was referred for reevaluation of previous diagnosis of Williams syndrome.

47,XY,der(14)t(9;14)(p24;q13)mat.,46,XX,t(9;14)(p24;q13).

WC had minor facial anomalies, developmental delay, hyperphagia, and obesity.

This was their seventh pregnancy: there were four first-trimester miscarriages and two healthy children. FISH analysis for Prader-Willi and Williams syndromes did not identify any deletion. Methylation studies also ruled out PWS.

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 9p+;14q+;

Mother:46,XX,t(9;21)(p24;q214).&"Case 1:46,XY,-9,+der(9)t(9;21)(9qter -> 9p24::21q214 -> 21qter)."&"Case 2:47,XX,+der(21)t(9;21)(21pter -> 21q214::9p24 -> 9pter)."

Negative band

Mother:46,XX,t(9;16)(p24;q21).&"46,XX,-9,+der(9)t(9;16)(9qter -> 9p24::16q21 -> 16qter)mat."

Patient was a dysmorphic six month old, with psychomotor retardation.

Aberration: Simple translocation

Chromosomal Aneuploidy: 16q+

Negative band

46,XX,t(9;14)(9qter -> 9p24::14q24 -> 14qter;14pter -> 14q24::9p24 -> 9pter).&"47,XX,+der(14),t(9;14)(p24;q24)mat."

Patient died after 35 days, and had multiple congenital anomalies including iris coloboma.

Aberration: Reciprocal translocation

Index Terms: Coloboma

Negative band

A 35-month-old male (NIG 1985) was found to have a ring chromosome 9.

46,XY,r(9)(p24q34).&46,XY,r(9)(p24 -> q34).&Clinical features are compatible to four other previous reports of ring chromosome 9.

Aberration: Ring chromosome

Negative band

46,XX,t(9;16)(p24;p13.1).&"46,XY,-9,+der(9)t(9;16)(9qter -> 9p24::16p13.1 -> 16pter)mat."

The patient showed MCA.

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 16p+

Negative band

46,XX,t(9;12)(p24;q21.2).&"46,XX,-9,+der(9)t(9;12)(9qter -> 9p24::12q212 -> 12qter)mat."&Proband died after 37 days.

Aberration: Simple translocation

Negative band

46,XX,r(9)(p24q34).ish r(9)(305J7-T7-,p16+,ABL+,D9S325-)[19]/46,XX,-9[1].,46,XY,r(9)(p24q34).ish r(9)(305J7-T7-,p16+,ABL+,D9S325-)[20].

About 115 kb deletion at 9p end and 95 kb at 9q.

Aberration: Ring chromosome

Chromosomal Aneuploidy: 9p-;9q-

Patient I.P. No. 9493 in this report.

45,XX,-9,-21,+der(9)t(9;21)(p24;q221).&45,XX,-9,-21,+der(9)(9qter -> 9p24::21q221 -> 21qter).

Aberration: Simple translocation

Negative band

Case 3=der(9p)t(9p;13q)mat.

Case ascertained prenatally, positive family history, patient 1 month old at the time of telomere test with MCA.

Monosomy 9p=27cM (762D7-;830F3+).

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 9p-;13q+

No band

Case 3 in this report.

46,XY,-13,+t(13;13)(q14;p11).&"46,XY,-13,+t(13;13)(I13qter -> I13p11::II13q14 -> II13qter)."&A useful table listing the presence of clinical features in trisomies for the proximal and distal segments of chromosome 13 has been provided. Features commonly present in trisomy of proximal segment are moderately reduced birth weight, small mouth and small chin, scalp defects, clinodactyly of fifth fingers and an increase of nuclear projections in polymorphonuclear leukocytes. Features found more frequently in trisomy of distal segment are trigonocephaly, long and markedly curved eyelashes, stubby nose and increased distance between nose and upper lip, misshapen ears, with prominent antihelix which is curved in a sharp angle and very small or absent lobules and hexadactyly.

Individual III-3, (case 1) in the pedigree.

46,XX,-9,+der(9)t(9;13)(p24;q22)pat.&"46,XX,-9,+der(9)t(9;13)(9qter -> 9p24::13q22 -> 13qter)pat."

Individual III-7, (case 2) in the pedigree was diagnosed on clinical grounds as having partial trisomy 13.

Individuals II-4 and II-5 in the pedigree.

46,XY,t(9;13)(p24;q22).

Aberration: Simple translocation

Index Terms: Antihelix,Chin ... small,Clinodactyly,Ears ... antihelix (prominent),Ears ... mishappen,Eye-lashes ... curved,Mouth ... small,Philtrum ... long,Scalp defects,Trigonocephaly

Negative band

45,XX or XY,-9,-11,+t(11;9)(p15;p24).,End to end fusion is hypothesized with inactivation or suppression of centromere of chromosome 9.

Aberration: Terminal rearrangements

Negative band

Case 2:

45,XY,-9[5]/46,XY,r(9)(p24q34.3)[45].ish r(9)(9ptel+,9qtel+,AHT-).

The 16 month old Jordanian patient was referred because of short stature.

Aberration: Ring chromosome

Case 2.

46,XY,r(9)(p24q34).

Aberration: Ring chromosome

Negative band

Amintic fluid=mos45,XY,-9[11]/46,XY,r(9)(p24q34)[69].,Fetal blood by cordocentesis=46,XY,r(9).

The 35 year old mother had amniocentesis because of her age, and the pregnancy was terminated.

FISH analyses showed a very small deletion of the terminal region of 9p including the DM-domain gene (DMRT1, DMRT2) cluster.

Aberration: Ring chromosome

MIM#: 602424,604935

Index Terms: DM-domain gene cluster,sex reversal

No band

46,XX,rcp(9;18)(p24;q12).

Aberration: Reciprocal translocation

Negative band

Case 14=46,XX,der(9)t(9;7)(p24;p22).

Patient ascertained because of MCA.

Loss of 9pter and gain of 7pter.

Aberration: Simple translocation

Chromosomal Aneuploidy: 9p-;7p+

46,XX,t(9;15)(p24;q11.2)&"46,XY,der t(9;15)(p24;q11.2)mat."

The three generation family study revealed the origin of the familial marker chromosome. At 13 weeks the child was developing normally.

Aberration: Simple translocation

Index Terms: Marker chromosome

Negative band

46,XY,der(9)t(9;15)(9qter->9p24::15q24->15qter)pat.,Father and a brother=46,XY,t(9;15)(p24;q24).

The patient was 9 years old. Ultrasound confirmed bilateral, asymmetric optic disc drusen.

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 9p-;15q+

Index Terms: Optic disc Dreusen