310 Cs eotpatient has 'a new form of ectodermal dysplasia'and that he has 'not seen a combination like thisbefore' (personal communication to J.M.O., 28February 1974).We are impressed that this patient has a genetic

condition, however, the exact aetiology remainsunknown. The senior author would be grateful forinformation about similar patients.

We are very grateful to Dr Paulo Zelter Grupen-macher (for the ophthalmological examination), to Pro-fessor Dr Octavio Augusto da Silveira (for the EEG), toProfessor Rui F. Pilotto (for the photographs), to Pro-fessor Dr Haydee Abdala (for the neurological data), toProfessor Nelly Mattos Mehl (for the psychological in-vestigation), to Dr Roaldo A. Koehler (for the radio-

RBERENCES

Abdala, H. (1974). Estudos neurol6gicos em uma paciente com umadisplasia neuroectodermica. Ciencia e Cultura (Brazil). (Inpress.)

Barr, A. N., Grabow, J. D., Matthews, C. G., Grosse, F. R., Motl,M. L., and Opitz, J. M. (1971). Neurologic and psychometricfindings in the Brachmann-DeLange syndrome. Neuropadiatrie,3,46-66.

Freire-Maia, N. (1971). Ectodermal dysplasias. Human Heredity,21, 309-312.

Freire-Maia, N. (1975). Nosologic groups with special reference toectodermal dysplasia. (In press.)

A case of partial (9p) trisomy in afamily with a balanced translocation

46,XX,t(lp+9q-)Summary. A case of partial trisomy

9 is described, confirming that this willproduce a recognizable syndrome of acharacteristic facies with deep-set eyesand an unusual shape of the nose.Failure of secondary sexual characteris-tics to develop appears to be a feature inadults. In this case the mother had abalanced translocation between chromo-somes 1 and 9 and must have, in addi-tion, had a non-disjunction of hernormal and her deleted No. 9 in orderto produce the unbalanced state in herdaughter.

Received 4 November 1974.

logical analysis), and to Professor Eleidi A. Chautard-Freire-Maia and Neria Amorim Maia (for help in ob-taining the dermatoglyphics).

N. FREIRE-MAIA, V. A. FORTES, L. C. PEREIRA,JOHN M. OPITZ, F. A. MAR4ALLO, and

I. J. CAVALLI

Departments of Genetics and Pharmacology,Institute of Biology, Federal University of

Parana, Curitiba, Brazil, Department of Medicine,Medical School, Catholic University of Parand,Curitiba, Brazil, and Departments of Pediatricsand Medical Genetics, University of Wisconsin,

Madison, USA

Freire-Maia, N., Fortes, V. A., Pereira, L. C., Opitz, J. M., Marqailo,F. A., and Cavalli, I. J. (1973). Um sindrome com displasiaectodermica hipohidr6tica, ftcies peculiar, distsrbios de pigmen-taq5o, retardo psico-motor e ponderal e outros sinais. C;encia eCultura (Brazil), 25 (suppl.), 230-231.

Mehl, N. M. (1974). Estudo psicol6gico em uma paciente com umadisplasia neuroectodermica. Ciincia e Cudtura (Brazil). (Inpress.)

Toledo, S. P. A., Saldanha, S. G., Laurenti, R., and Saldanha, P. H.(1969). Dermaloglifos digitais e palmares de individues normaisda populaplo de Sao Paulo. Revista Paulista de Medicina, 75, 1-10.

A syndrome associated with trisomy of the shortarms of chromosome No. 9 was first identified byRethore et al (1970). This report describes a fur-ther example of the syndrome in an adult female,born to a mother who was a balanced translocationcarrier 46,XX,t(lp + 9q -).

Case reportThe subject is a young Caucasian woman born on 30

August 1951 to non-consanguineous mother and fatheraged 24 and 25 years, respectively, at her birth. Birthweight was 2 900 g. There was a history of threatenedabortion at 3 and 6 months. She had jaundice at 3weeks of age and appeared to be mentally retarded by theage of 1 year. She was sitting up at 3+ years and stand-ing at 5 years. She could say single words at 4 years.She had an operation for ptosis at the age of 6 andattended a special school until her admission to a hospitalfor the mentally handicapped on 13 March 1964. Sinceher admission to hospital there has been little change inher physical and mental state.

Physical state (Figs. 1 and 2). She is ofsmall stature;height 134.0 cm and weight 3 600 g. She has fair hair,blue eyes, and rather small ear lobes. Cranial circum-

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FIG. 2. Facies of the proposita.

FIG. 1. The proposita showing absent secondary sexual character-istics.

ference is 51 cm, cranial length 17 cm, and cranial width13 cm. There is a convergent strabismus, ptosis, lowhair line anteriorly and posteriorly, and the end of thenose has a bulbous appearance. The palate is higharched. Blood pressure is 100/50. She has shortthumbs, clinodactyly, and single palmar creases on bothhands. Her left hand finger print pattern is as follows:ulnar loop on the thumb, arch on the index finger, andulnar loops on the middle, ring, and little fingers. Onthe right hand she has an ulnar loop on the thumb,arches on the index and middle finger, and ulnar loopson the ring and little fingers. The axial triradii are inthe normal position. On both palms the c and d digitaltriradii are replaced by one interdigital triradius betweendigits IV and V. There is a complete failure of develop-ment of the secondary sexual characteristics with absentpubic and axillary hair and no breast development.Because of the amenorrhoea, apparent webbing of theneck, and her small stature, a possible diagnosis ofTurner's syndrome was initially made.

Mental state. She is in the profoundly mentallyretarded category with a mental age of 3 years and an

intelligence quotient on the Terman Merrill tests of lessthan 30. Her conversation is limited to 'Daddy' and'Hallo'. She is ambulant and can feed herself.

Investigations. Radiological skull examinationshows slight hypertelorism and a thick cranial vault.

Radiology ofthorax, spine, and limbs shows no abnormal-ity. Amino-acid excretion is normal. Ketosteroid ex-cretion is 3.33 ,umol/24 h (0.96 mg/24 h); considerablybelow normal. Electroencephalogram shows an un-usual abnormality in the form of paroxysmal runs lastingabout 2 s of bilateral and diffuse 8 Hz waves of low tomedium voltage. The latter is of greater amplitude inthe frontal rather than the occipital areas. She has nohistory of epilepsy.

Cytogenetic techniquesShort-term lymphocyte cultures were set up

using a modification of the method of Moorhead etal (1960). Cells were harvested after 72 h incuba-tion with Colcemid (Ciba) treatment during the last2 h. The cultures were subjected to treatment witha hypotonic solution of 0.90% trisodium citrate at37°C for 10 min, and fixed in three changes ofmethanol: acetic acid (3:1). Slides were preparedby a flame-drying technique. Giemsa-bandedmetaphase spreads were prepared by a modifica-tion of Seabright's method (1971). Pre-warmed,freshly-made slides were flooded with a solution of5% trypsin (Difco) diluted 1:14 in isotonic salinefor about 20 s. The slides were rinsed twice inisotonic saline then stained for 5 min in 10%Giemsa (Gurr) in pH 6.8 phosphate buffer. Theslides were rinsed in buffer, dried, and mounted inDePex.

Cytogenetic findingsProposita. Chromosome analysis of peripheral

lymphocyte cultures revealed a modal number of 47.

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An additional small metacentric chromosome waspresent, which was similar in appearance to themembers of pair E16, but which could be readilyidentified in the majority of metaphase spreads bythe possession of a prominent secondary constric-tion. The other 46 chromosomes were of normalfemale pattern. A single Barr body was seen in45% of cells in a buccal smear. In view of theseresults chromosomal investigations of her parentsand of her younger sister, age 15, were carried out.Her sister is of normal appearance and attends anordinary school. The parents are phenotypicallynormal.

Parents and sister. Analysis of the father'schromosomes revealed a normal male pattern:46,XY. Both the mother and normal daughter,however, showed an abnormal karyotype. All thecells examined contained 46 chromosomes. One

44

1 2

9

member of the C group was apparently missing andwas replaced by a small metacentric chromosomebearing a secondary constriction which was alsoseen in the proposita. In addition, one arm of thechromosome 1 was found to be unusually long.These findings were tentatively interpreted as

resulting from a balanced reciprocal translocationbetween a No. 1 chromosome and a member of theC group, thought to be a No. 9 because of thepresence of the secondary constriction.

Giemsa-banded preparations were made fromfresh cultures which confirmed this interpretation(Figs. 3, 4, and 5). It could be seen that two breakshad occurred: one at band p36 on chromosome 1and the other at q21 on chromosome 9. Reciprocaltranslocation of the distal portions of these chromo-somes had taken place. Both the mother and thephenotypically normal daughter are, therefore,balanced translocation carriers, with a karyotype:

*

4..:.. .. O

..

43

a ...*;

6 7 8

:ft

.h4t..# a,

10 11

.1 e .;; 4

kI It a.0 i:o. *I

*l. *5

... s:

5

I #

12

.#,% :X,.

13 14 15 16 17 18

1- 4

19 20 21 22

FIG. 3. Banding studies on the proposita, confirming trisomy of the short arm of the No. 9 chromosome.

x x

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Xbea a. it

2 3

I;

7 8

a0

4 5

-W -

101- Q

9 10 11 12

13

at

19 20

. 5.

14 15

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%A% 4

16 17 18

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xx

FIG. 4. Banding pattern of the mother.

eiEll>eSllE3 ON n

7- - i i belowq 2 the line

d I e

1 9 den der 9

.I position of breaksDerivative Chromosomes

FIG. 5. Diagrammatic formation of the derivative chromosomes1 and 9.

46,XX,t(1;9)(1 qter->lp36::9q21-t9qter;9pter-->9q21: :lp36- lpter) (shortened designation: 46,XX,t(1 ;9)(p36;q21)). Giemsa-banded metaphasespreads from the proposita confirmed that theadditional chromosome was the No. 9 chromosomeinvolved in this reciprocal translocation ie, der(9).The karyotype of the propositus is therefore 47,XX,+ der(9),t(1 ;9)(p36;q21)mat.

DiscussionRethore et al (1970) described four mentally re-

tarded patients with an unusual appearance, notablymicrocephaly and brachycephaly with small eye

sockets, deep set eyes, and a convergent squint.The nose was large and globular with a broad base.Clinodactyly was also featured. Failure of develop-ment of secondary sexual characteristics was seen inthe older cases. The present case fits this descrip-

..494

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1

6

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tion accurately. Rethore and his co-workerswere able to identify the chromosome concernedas the No. 9 because of the secondary constric-tion. In the present case, as well as a second-ary constriction being present, banding studiesfurther confirmed the identity of the chromosome.Previous reports of the C-group trisomies had notfurther identified the particular chromosomeinvolved but nevertheless certain of these reportsdescribed patients with comparable abnormalities tothose given here. These were reviewed byDeminatti et al (1969), and it seems likely that insome of these cases the No. 9 was also concerned.The syndrome has been further described by Hoehnet al (1971), Baccichetti and Tenconi (1973),Podruch and Weisskopf (1974), and Rethore et al(1973).Of particular interest is the dual event which has

taken place. The mother, as well as being abalanced translocation carrier, must in addition havehad a non-disjunction of her normal and her deletedNo. 9 chromosome in order to produce the tri-somic state in the daughter. Such a dual event israre in man but has been described by Insley et al(1968). In a number of the previously reportedcases of trisomy 9p the children have been born to aparent with a balanced translocation and a similardual event must also have taken place in thesepatients. In the present case the question arises asto the risk of a similar non-disjunction affecting theyounger sister with the balanced translocation.

Amniocentesis will undoubtedly be indicated if shebecomes pregnant.

M. K. MASON, D. A. SPENCER, andALLISON RUTTER

The Regional Cytogenetic Unit, PathologyDepartment, St James's Hospital, and

Meanwood Park Hospital, Leeds

REFRENCESBaccichetti, C. and Tenconi, R. (1973). A new case of trisomy for

the short arm of No. 9 chromosome. Journal of Medical Genetics,10,296-299.

Deminatti, M., Maillard, E., Gosselin, B., Peltier, J. M., Bulteel,M. F., and Dupuis, C. (1969). Trisomie partielle C par trans-location t(Cp-;Gp +). Annales de Gindtique, 12, 36-45.

Hoehn, H., Engel, W., and Reinwein, H. (1971). Presumed tri-somy for the short arm of chromosome No. 9 not due to inheritedtranslocation. Humangenetik, 12, 175-181.

Insley, J., Rushton, D. I., and Everley Jones, H. W. (1968). Anintersexual infant with an extra chromosome. Annales deGenitique, 11, 88-94.

Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., andHungerford, D. A. (1960). Chromosome preparations of leuko-cytes cultured from human peripheral blood. Experimental CellResearch, 20, 613-616.

Podruch, P. E. and Weisskopf, B. (1974). Trisomy for the shortarms of chromosome 9 in two generations, with balanced trans-locations t(15p + ;9q -) in three generations. Journal of Pediat-rics, 85, 92-95.

Rethor6, M. O., Larget-Piet, L., Abonyi, D., Boeswillwald, M.,Berger, R., Carpentier, S., Cruveiller, J., Dutrillaux, B.,Lafourcade, J., Penneau, M., and Lejeune, J. (1970). Sur quatrecas de trisome pour le bras court du chromosome 9. Individuali-sation d'une nouvelle entit6 morbide. Annales de Gindtique, 13,217-232.

Rethore, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux,B., and Lejeune, J. (1973). Analyse de la trisomie 9p par denatu-ration m6nagee. Humangenetik, 18, 129-138.

Seabright, M. (1971). A rapid banding technique for humanchromosomes. Lancet, 2, 971-972.

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