46,XX,t(5;14)(p15;q13).&47,XY,+der(14)(14pter -> 14q13::5p15 -> 5pter)mat.

Patient was 1 year old and had peculiar head, apparently low-set ears, hypotelorism, depressed nasal bridge, down-turned angles of the mouth, and coloboma of the iris.

Aberration: Reciprocal translocation

Index Terms: Coloboma,Ears ... low-set,Hypotelorism,Mouth ... downturned corners

Negative band

46,XY,t(5;11)(p15;p12).&"46,XX,-5,+der(5)t(5;11)(5qter -> 5p15::11p12 -> 11pter)pat."

Aberration: Simple translocation

Index Terms: Aneurysm ... interatrial septum

Negative band

Patient I.P. No. 19129 in this report.

46,XY,t(5;15)(p15;q14).&"46,XY,t(5;15)(5qter -> 5p15::15q14 -> 15qter;15pter -> 15q14::5p15 -> 5pter)."

Aberration: Reciprocal translocation

Negative band

Case C6063 and III-4, and III-5 in this report.

46,XX,-5,+der(5)t(5;10)(p15;p11)mat.&The features of the patient, who died on the third day after birth, were severe retrognathia, low-set and dysmorphic ears with a preauricular appendix on the left side, prominent nasal bridge, hypotonia of muscles, cutix laxa, truncus arteriosus communis persistens and a persistent foramen ovale, an additional lobe of the right part of the liver, spina bifida occulta, right kidney showed multiple cysts of the tubuli and only rudiments of glomerula.

Case C6289 in this report.

46,XX,t(5;10)(p15;p11).&"46,XX,t(5;10)(5qter -> 5p15::10p11 -> 10pter;10qter -> 10p11::5p15 -> 5pter)."

Cases C6105, 6107 and 6287 in this report.

46,XX,der(5)der(10)t(5;10)(p15;p11)mat.

Family S in this report.

Aberration: Simple translocation

Index Terms: Ears ... anomalies (dysmorphic),Hypotonia,Kidney ... malformations,Spina bifida

Negative band

46,XX,t(5;11)(p15;p14).&"46,XX,t(5;11)(5qter -> 5p15::11p14 -> 11pter;11qter -> 11p14::5p15 -> 5pter)."&"46,XY,der(5)der(11)t(5;11)(p15;p14)mat and pat."

Patient Isabelle R. (061067) in this report.

46,XX,-5,+der(5)t(5;11)(p15;p14)pat.&Clinical features of three previously reported cases of 11p trisomy are compared and the common features are: mental retardation, prominent frontal bossing, strabismus, micropthalmia, and abnormalities of the extremities.

Aberration: Reciprocal translocation

Index Terms: Eye ... microphthalmia,Microphthalmia,Strabismus

Negative band

Patient W. G. was 39 years old.

46,XY,t(5;18)(p15;q21).

Aberration: Simple translocation

Negative band

46,XY,inv(5)(p15q11)mat.

Aberration: Inversion pericentric

Negative band

It could be that the two reports are on the same family.

Case 9 (S.M.) in the 1975 report.

46,XY,-5,+t(5;13)(p15;q12).&"46,XY,-5,+t(5;13)(5qter -> 5p15::13q12 -> 13qter)."

Family No. 15 in the 1996 report:

t(5;13)(p15;q22)mat.,Fetal karyotype - 46,XY,der(5),t(5;13).

Family ascertained because of a previous infant with an unbalanced karyotype.

Aberration: Simple translocation

Index Terms: Patau syndrome (trisomy 13)

Negative band

A carrier mother was worked up after having a child with the cri-du-chat syndrome.

46,XX,t(5;11)(p15;q25).&"46,XY,-5,+der(5)t(5;11)(p15;q25)mat."&"46,XX,-5,+der(5)t(5;11)(p15;q25)mat."

Aberration: Simple translocation

Chromosomal Aneuploidy: 5p-

Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)

Negative band

t(5;9)(p15;p13); t(5;9)(p15;p24); t(5;10)(p15;q25); t(5;13)(p15;q11); t(5;14)(p15;q13); t(5;14)(p15;q24); t(5;15)(p15;q22); t(5;17)(p15;q11); t(5;18)(p15;q21); inv(5)(p15q12).

Aberration: Reciprocal translocation

Negative band

46,XY,t(5;18)(p15;q21).

Aberration: Reciprocal translocation

Negative band

46,XY,t(5;7)(p15,q22).&"46,XY,der(5)der(7)t(5;7)(p15;q22)pat."&Three other instances are quoted where the child turned out -> have abnormalities when identical chromosomal variation or anomaly was found in the parent.

Aberration: Reciprocal translocation

Negative band

46,XY,t(5;21)(p15;q11).

Aberration: Simple translocation

Negative band

46,XX,t(5;9)(p15;p12).

Patient was 2 years old.

45,XX,-5,+der(5)t(5;9)(5qter -> 5p15::9p12 -> 9pter)mat,der t(13q14q)pat.

Aberration: Simple translocation

Negative band

Case 77-419.

t(5;10)(p15;q11)mat.

Aberration: Reciprocal translocation

Negative band

Family B in this report.

46,XX and XY,t(5;12)(p15;p11).

Aberration: Simple translocation

Negative band

46,XY,-5,+der(5)(5qter -> 5q22::5p14 -> 5q21::5p15 -> 5pter).&There is a deletion of about 1/2 of the band segment of 5p15. A male child with the cri du chat syndrome carries a nearly metacentric, slightly shorter than normal chromosome No. 5. This chromosome was tentatively interpreted as the product of a three-break rearrangement with loss of a major part of band p15.

Aberration: Terminal deletion

Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)

Negative band

Individual II-2 in the pedigree.

46,XX,t(5;14)(p15;q13).&"46,XX,t(5;14)(5qter -> 5p15::14q13 -> 14qter;14pter -> 14q13::5p15 -> 5pter)."

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

46,XX,der(5)der(14)t(5;14)(p15;q13)mat.

Patient had severe congenital anomalies including mental retardation and odd facies.

Proband III-2 (031168) in this report.

45,XX,-5,-14,+der(5)t(5;14)(p15;q13)mat.

Aberration: Reciprocal translocation

Index Terms: Face ... anomalies

Negative band

46,XY,t(5;20)(p15;p11).&"46,XY,der(5)t(5;20)(5qter -> 5p15::20p11 -> 20pter)."

Aberration: Simple translocation

Negative band

46,XX,t(5;15)(p15;q22).&"47,XY,+der(15),t(5;15)(p15;q22)mat."&"The proband, 101276, presented with multiple malformations of the face and extremities. At 15 months of age his psychomotor development was very poor; he showed no interest in his surroundings and his head lolled."

Aberration: Reciprocal translocation

Index Terms: Face ... anomalies

Negative band

YAC contigs and clones were developed and used as probes for FISH to differentiate patients with cri-du-chat syndrome and patients with atypical phenotype with cat-like cry only.

Aberration: Terminal deletion

Chromosomal Aneuploidy: 5p-

No band

Observation No. 571.

46,XX,-5,+der(5),t(5;11)(p15;q25)mat.

Aberration: Reciprocal translocation

Negative band

Amniocytes=45,XX,der(5)t(5;18)(p15;q11.2)de novo,-18.

The phenotype is comparable to that of 5p- (cri-du-chat syndrome) and 18p- syndromes.

The abnormal karyotype was confirmed in blood after birth.

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 5p-;18p-

Observation No. 602.

46,XX,t(5;15)(p15;q22).

Aberration: Reciprocal translocation

Negative band

Patient A 245 (221157) in this report.

46,XY,t(5;18)(p15;q12).&Both parents had normal chromosomes.

Aberration: Simple translocation

Negative band

46,XY,t(5;17)(p15;p11).

Patient M. T. was 6 months old.

46,XY,-5,+der(5)t(5;17)(5qter -> 5p15::17p11 -> 17pter)pat.

Aberration: Simple translocation

Negative band

Family Wo. 230/74.

inv(5)(p15q31 or 35).

Aberration: Inversion pericentric

Negative band

Observation No. 563.

46,XY,t(5;10)(p15;q12)pat.

Aberration: Reciprocal translocation

Negative band

Case No. 19=46,XY,add(5p).rev ish enh(5p15->pter)x2.

The patient was dysmorphic with failure to thrive.

Aberration: Direct duplication

Chromosomal Aneuploidy: 5p+

47,XY,+CF,inv(5)(p15q32)mat.

Aberration: Inversion pericentric

Negative band

mos 46,XY,t(5;15)(pter;q12)/46,XY,t(8;15)(qter;q12)/46,XY,t(12;15)(qter;q12).

Patient, 100577, with Willi-Prader syndrome was found to have three cell lines with these ''jumping'' rearrangements, all were balanced translocations.

Aberration: JT

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

Patient KJ:

Mother=46,XX,inv(5)(p15.2/3?q34).,Patient=46,XX,add(5p15.2).rec(5)del(5)(p15.3->pter),dup(5)(q34->qter)mat.

The patient, with MCA, had a difficult course, including cardiac surgery.

Aberration: PI,RE

Chromosomal Aneuploidy: 5p-;5q+

46,XX,inv(5)(p15q11).&46,XX,inv(5)(pter -> p15::q11 -> p15::q11 -> qter).

Aberration: Inversion pericentric

Negative band

CTNND2 maps to a specific region in 5p15.2. A strong correlation was found between the hemizygous loss of delta-catenin and severe MR.

Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome),delta-catenin (CTNND2)

Negative band

Patient 1.

46,XY,-5,+der(5),t(5;13)(5qter -> 5p15::13q21 -> 13qter)mat.&"Patient 2:47,XY,t(5;13)(p15;q21),+der(13),t(5;13)(13pter -> 13q21::5p15 -> 5pter)mat."&"46,XY,der(5)der(13)t(5;13)(p15;q21)mat."

Patient 1 had MCA/MR and died 19 days after birth.,Patient 2: The fetus showed multiple anomalies.

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 5p-,5p+

Negative band

46,XY,-5,+der(5),t(5;8)(p15;p11).,46,XX,t(5;8)(p15;p11).,46,XY,der(5),t(5;8)(5qter->5p15::8p11->8pter)mat.

Phenotypic female with a male karyotype, and other MCA were present.

Patient died at 3 months of age.

Aberration: Simple translocation

Chromosomal Aneuploidy: 8p+

Negative band

Individual 1 (HHW659).

46,XX,der(5),t(5;18)(p15;q12.2)mat.

Patient had multiple anomalies similar to Edwards syndrome .

Aberration: Simple translocation

Chromosomal Aneuploidy: 5p-,18q+

Negative band

Observation No. 570.

46,XY,t(5;11)(p15;p13)pat.

Aberration: Reciprocal translocation

Negative band

A four generation family with several carrier and affected individuals is reported.

46,XX or XY,t(5;11)(p15;q23).&"46,XX and XY,-5,+der(5),t(5;11)(5qter -> 5p15::11q23 -> 11qter)pat."

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 5p-,11q+

Negative band

46,XYq+,r(5)(p15q35).&46,XYq+,r(5)(p15 -> q35).&The Y chromosome was as long as a D group chromosome. It was estimated that about 5.5% of the chromosome 5 material has been lost due -> the ring formation in a patient with cri-du-chat syndrome.

Aberration: Ring chromosome

Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)

Negative band

Sibship P.M. in this report.

t(5;18)(p15;q21).

Aberration: Reciprocal translocation

Negative band

Observation No. 544.

46,XY,t(5;8)(p15;q23)mat.

Aberration: Reciprocal translocation

Negative band

Data for 331 cri-du-chat cases are reviewed. The incidence and the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. No striking association with prenatal events, parental ages, or birth order could be demonstrated. There was a significant excess of females. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations accounted for less than 10% of all cases. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band. No obvious correlation could be detected between clinical features and the localization of the deletion. Anthropometric and cranial X-ray measurments of 35 individuals with a 5p- karyotype showed a general growth retardation. Height, weight, circumference of the thorax, pelvic breadth, and the size of the skull, face, hands and feet were all subnormal. Large and small terminal deletions produced much the same anthropometric features, and the probands sex did not have a major influence. A certain phenotypic variation in the cri-du-chat syndrome may therefore be attributed to normal changes or to intrapersonal conditions.

Aberration: Terminal deletion

Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)

Negative band

Observation No. 564.

46,XX,t(5;10)(p15;q24)pat.

Aberration: Reciprocal translocation

Negative band

Case 1 in this report.

46,XY,t(5;6)(p15;q15).&"46,XY,t(5;6)(5qter -> 5p15::6q15 -> 6qter;6pter -> 6q15::5p15 -> 5pter)."

Case No. 2 in this report.

46,XX,t(5;7)(p15;p12).&"46,XX,t(5;7)(5qter -> 5p15::7p12 -> 7pter;7qter -> 7p12::5p15 -> 5pter)."

Parental karyotypes were normal.

Parents had normal karyotypes.

Aberration: Reciprocal translocation

Negative band

Chromosome studies were performed on three cases; led -> the conclusion that the segment responsible for the "cri du chat" syndrome is the proximal portion of the band 5p15.

Aberration: Terminal deletion

Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)

Negative band

No distinct phenotype has emerged though grave malformations and early death occur more frequently.

46,XX,t(5;10)(p15;p13).&"46,XX,der(5)der(10)t(5;10)(p15;p13)mat."&"46,XX and XY,-5,+der(5)t(5;10)(p15;p13)mat."&"46,XX and XY,-5,+der(5)t(5;10)(5qter -> 5p15::10p13 -> 10pter)mat."

Dermatoglyphic features of 10p trisomy, based on 11 cases are: Frequent whorls and high total finger ridge count, axial triradii t'', high atd angles, abnormal creases on the palms and soles, B- and C-lines terminating in third and second interdigital areas, respectively, and general dysplasia of the papillary ridges.

Aberration: Simple translocation

Negative band

A three generation pedigree with the t(5;13) is presented.

46,XX or XY,t(5;13)(p15;q22).,46,XX or XY,der(13)t(5;13)(13pter->13q22::5p15->5pter)mat.,46,XX or XY,der(5)t(5;13)(5qter->5p15::13q22->13qter).

The offspring have a specific and well-defined phenotype: when a partial trisomy is present, the fetus have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy, an oligodactyly in all members can be observed.

Aberration: Reciprocal translocation

Chromosomal Aneuploidy: 13q-;13q+

mos46,XY/46,XY,del(5)(p15)(25%-blood;30%-fibroblasts)de novo.

Fo values one and two octaves above normal were found in this and another patient without mosaicism respectively. Other anomalies noted were VSD, hypotonia, mild dorsal scoliosis with gibbus on the left side.

Aberration: Terminal deletion

Chromosomal Aneuploidy: 5p-

Index Terms: Phoniatric,Octave

Negative band

Patient A:

46,XY,t(5;6;11)(5pter->5p15::5q21->5p15::6q15->6qter;6pter->6q15::11p11.2->11pter;5qter->5q21::11p11.2->11qter)de novo.

The pregnancy was continued and the child has minor dysmorphic features and development at 9 months of age was WNL.

Aberration: CT,PI

Negative band

Case 10, 84-74, the fetal karyotype was abnormal.

Case 11, 86-291, the fetal karyotype was carrier also.

46,XX,t(5;18)(p15;q21).&"46,-5,+der(5)t(5;18)(5qter -> 5p15::18q21 -> 18qter)mat."

Case 6, 85-24

Case 7, 86-134, the fetal karyotype was carrier also.

Case 8, 86-183, the fetal karyotype was normal.

46,XY,t(5;11)(p15;q21).

Case 9, 86-282, the fetal karyotype was normal.

46,XY,t(5;15)(p15;p11).

The fetal karyotype was normal.

46,XY,t(5;9)(p15;p12).

Aberration: Reciprocal translocation

Negative band

A three generation family is reported.

I-1: 46,XX,inv(5)(p15q32).&II-4: 46,XY,der inv(5)(p15q32)mat.&III-2: 46,XY,rec(5),dup q,inv(5)(p15q32)pat.

Aberration: Inversion pericentric

Negative band

46,XY,t(5;13)(p15;q14).&"46,XY,der(5)t(5;13)(p15;q14)pat."&"46,XY,der(5)t(5;13)(5qter -> 5p15::13q14 -> 13qter)pat."&A mentally retarded 17 year-old male (000460) with peculiar facies, hexadactylia and severe malformations of the urogenital system.

Aberration: Simple translocation

Index Terms: Face ... anomalies

Negative band

46,XY,del(5)(p15).

Aberration: Terminal deletion

Chromosomal Aneuploidy: 5p-

Two cases of cri du chat syndrome were found -> have a ring chromosome 5 in almost all their cells. The lack of No. 5p15 band in both cases sufficed -> produce the well-known features.

Aberration: Ring chromosome

Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)

Negative band

Patient K.B.

46,XY,t(5;17)(5qter->5p15::17q23->17qter)de novo.

Patient at 21 months of age had MCA/MR.

Aberration: Simple translocation

Chromosomal Aneuploidy: 5p-,17q+

Negative band

Case 2 in this report.

46,XX,rcp(5;8)(p15;q22).&The phenotype is characterized by low birth weight, mental retardation, bilateral bronchial cleft cysts, lowset ears, preauricular pits, clinodactylous short fifth fingers, hypotonia, distal axial triradii, 9 digital whorls, bilateral hallucal arch fibular patterns. Parental karyotypes were normal.

Aberration: Reciprocal translocation

Index Terms: Clinodactyly,Ears ... anomalies (dysmorphic),Ears ... preauricular pits,Hypotonia

Negative band

46,XY,t(5;18)(p15;q12).

A couple with 2 abortions.

Aberration: Simple translocation

Negative band

46,XY,t\inv(5)(p15q15);7\(q15;q32).&46,XX,+7q.

The karyotype nomenclature of the fetus is not in conformity with ISCN (ie is it 7q+ or is it partial trisomy for 7q?).

Aberration: Reciprocal translocation

Negative band

Patient G.S. died after 35 days.

46,XY,-5,+der(5),t(5;11)(5qter -> 5p15::11p15.1 -> 11pter)pat.

Aberration: Simple translocation

MIM#: 130650

Chromosomal Aneuploidy: 11p+

Index Terms: Beckwith-Wiedemann syndrome

Negative band

46,XY,t(5;18)(p15;q21).

Aberration: Reciprocal translocation

Negative band

46,XX,t(5;10)(p15;p13).

Aberration: Simple translocation

Negative band

46,XX,t(5;13)(p15;q22).&"46,XX,t(5;13)(13qter -> 13q22::5p15 -> 5qter;13pter -> 13q22::5p15 -> 5pter)."&"46,XX and XY, der(5)der(13),t(5;13)(p15;q22)mat."&"46,XX,der(5),t(5;13)(p15;q22)mat."

Eight-day-old female infant with cyanosis and feeding difficulty was admitted to the hospital. Congenital malformations include antimongoloid slant of the eyelids, single hemangioma of the forehead and the nuchal region, prominent nasal bridge, high-arched palate, overlapping fingers, right palmar simian crease, prominent forehead, left accessory ear, low-set ears, slightly prominent heels, round facies, and catlike cry. Patient died at age 90 days from apneic spells with convulsions.

Aberration: Reciprocal translocation

Index Terms: Convulsion,Cri-du-Chat syndrome (Cat's cry syndrome),Ears ... accessory,Ears ... low-set,Eye ... antimongoloid,Eyelid ... antimongoloid,Face ... broad, round flat,Fingers ... overlapping,Foot ... prominent heels,Forehead ... prominent,Hemangioma,Palate ... high arched

Negative band

45,XX,der(5),t(5;14)(pter;q11.2)de novo

The 2 year old girl had corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma.

FISH showed that chromosome 5 had a very small deletion, confined to a region composed of repetitive sequences. Monosmy (about 16cM) of 14q is from the centromere to the D14S72 and D14S261 loci.,Phenotype mimicks in some ways the MLS phenotype.

Aberration: Simple translocation

MIM#: 309801

Chromosomal Aneuploidy: 5p-;14q-

Index Terms: MLS Phenotype