American Journal of Medical Genetics 43:697-700 (1992)

Brief Clinical Report Trisomy 9: An Additional Case With Unique Manifestations Maria I. de Michelena, Raul SBnchez, Pedro Muiioz, Emilio Cabello, Pablo Rojas, and Eduardo de Olazaval Departments of Morphologic Sciences (M.I.M.), Pediatrics (R.S., P.M., E.C.), Stomatology (P.R.), and Radiology (E.O.), Universidad Peruana Cayetano Heredia, Lima, Perli

We report on an infant with multiple congenital anomalies and mosaic trisomy 9. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macrocephaly,an extreme degree of palatal hypoplasia, and abnormally shaped long bones. o 1992 Wfiey-Liss, Inc. KEY WORDS chromosome abnormality,trisomy 9, multiple malformations

INTRODUCTION Trisomy 9 is a rare chromosome aberration in liveborn infants, most of whom are mosaics for the trisomic cell line. Here we describe a male infant with mosaic trisomy 9 and multiple congenital anomalies, some of which have not been described previously in this condition. CLINICAL REPORT J.C.L. is a male infant, the product of the first pregnancy of a 17-year-oldmother and a 22-year-old father, both healthy and non-consanguineous. Pregnancy and delivery were uneventful. Birthweight was 3,850 g (50th centile); length 52 cm (50th centile) and head circumference (OFC)37.5 cm (97th centile). Neonatally, the face appeared large in relation to the head and body, and extremely “coarse.” The baby was slightly hypertonic and had a low-pitched cry. The craniofacial abnormalities included (Fig. 1):Narrow forehead with deep grooves, especially when crying; very large fontanelles; small, deep-set eyes; large, bulbous nose; wide nasal bridge; hypertelorism; long and flat philtrum; thin lips with a long upper lip pro!ceived for publication May 13, 1991; revision received October 4, 1991. Address reprint requests to Dr. Maria I. de Michelena, Casilla Postal 5391, Lima 100, Peru.

0 1992 Wiley-Liss, Inc.

truding over the lower one; microretrognathia; large, abnormal ears, with “duplication” of the ear lobe. The neck was short and wide and slightly webbed. There was a cleft palate, with extreme hypoplasia of the palatal shelves with ethmoid bone protruding in the midline; hyperplastic alveolar ridges; short tongue, with ankyloglossia and a short, fibrotic frenulum. The infant had a broad chest, sloping shoulders, widely spaced nipples and narrow pelvis. There were large bilateral inguinocrural hernias. The penis was of normal size, but the glans looked disproportionately large; there was bilateral chryptorchidism. He had a heart murmur which suggested pulmonary stenosis. Cyanosis was present on crying. Bilateral limb abnormalities included: inability to extend the forearms; camptodactyly of digits 2 , 3 and 4, with absent flexion creases on the 3rd finger; “spatulate” fingers; hyperconvex, deep-set finger nails; deep palmar and plantar creases; prominent interdigital pads; bilateral simian crease; tibial deviation of the 2nd, 3rd and 4th toes (Fig. 2). Dermatoglyphics showed an arch in each first fingertip and whorls in the other fingertips; bilateral distal axial triradius (t”),with no hypothenar pattern; tibial arch on right hallucal area, and fibular loop on the left. Radiographs a t 23 months (Fig. 31, showed multiple skeletal abnormalities including: large cranium with increased antero-posterior diameter; hypoplastic clavicles, with exaggeration of the normal “ S shape; malposition of the scapula; scoliosis; minor changes in vertebral bodies; 13 pairs of ribs; cardiomegaly. The long bones, especially humeri and femora, were “dysplastic,” with metaphyseal flare, and short diaphysis. Iliac bones were hypoplastic and abnormal in shape, with flat acetabulum; there was coxa vara. The bone age corresponded to 3 years. Ultrasonography showed abnormal position of both kidneys and dilatation of the renal pelvis. Cerebral ecography demonstrated partial agenesis of corpus callosum, and a congenital cyst of the 3rd ventricle. Cardiac ecography showed an enlarged heart and malformation of the pulmonary artery. The baby was 23 months old a t the time of this report;

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Fig. 1. a , b The propositus at age 23 months.

Fig. 2. a,b,c: Hands and feet of the propositus, showing deep creases. Note simian crease on hand. Malpositioned toes on feet.

he is hypertonic and has progressed slowly; weight (9,400 g) and length (78 cm) are well below the 3rd centile; OFC is 49 cm (50th centile). Cyanosis has disappeared. Psychomotor development is severely delayed: he achieved head control a t 15 months; he sits with support, but does not roll over or crawl; he babbles and makes sounds in response to language. Developmental quotient is about 20%.

Cytogenetic findings Chromosome analysis was performed on peripheral blood lymphocytes; 60 GTG banded metaphases were analysed. Of these, 9 had 47 chromosomes with trisomy of chromosome 9; the other 5 1 cells had 46 normal chromosomes. Thus, the chromosome constitution of the patient is 46,XY/47,XY, + 9.

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Fig. 3. Radiographs of the propositus, a t 23 months old. (a) Pelvis and femora, (b) both shoulders.

DISCUSSION The first patient with trisomy 9 was identified by Feingold and Atkins 119731almost simultaneously with the second [Hasslam et al., 19731; Bowen et al. [19741 reported the third case and made the first attempt to delineate a syndrome. The existence of a recognizable phenotype associated with trisomy 9 has been established [Mantagos et al., 1981;Sanchez et al., 19821.The main manifestations in this syndrome, based on the 24 cases reported to date, were reviewed recently by Levy et al. [19891. These include: intrauterine growth retardation; early death and/or severe developmental delay; craniofacial abnormalities with a characteristic “gestalt,” due to the small eyes, bulbous nose and receding chin; a variety of skeletal anomalies; genitourinary and CNS malformations and congenital heart defects. The patient presented here has the characteristic facial appearance, and most of the typical findings of the syndrome (Table I). In addition, he shows some malformations which have not been reported previously. Among these are: macrocephaly, duplication of ear lobes; the severity of the palatal abnormality, only comparable to that of the case reported by Kamiker et al. [1985], who also had agenesis of the nose; the tongue defect, and abnormally shaped long bones. In most chromosomal syndromes, mosaicism for the abnormal cell line is related to a milder clinical picture, and there is usually some correlation between the proportion of chromosomally abnormal cells and the degree of phenotypic abnormality. Trisomy 9 syndrome is not

TABLE I. Characteristics Reported in Trisomv 9 Previous cases General Low birthweight Developmental delay Craniofacial Wide fontanelledsutures Microcephaly Microphthalmia Deep set eyes Short parpebral fissures Bulbous nose Cleftlabsent palate High arched palate Anomalous tonguelankyloglossis Low set/rotate&malformed ears Micrognathia Shortlwebbed neck Skeletal Hip dislocation Joint limitation Abnormal handslfeet Anomalous ribslclavicle Abnormally shaped long bones Other CNS malformation Cardiovascular defects Renal defects Abnormal genitalidcrvutochidism

Present case

19/24 17/17 13/24 8/24 10124 9124 13/24 13/24 6/24 9/24 0124 21124 10124 7/24 13/24 10124 14/24 4/24 0124 8/24 18/24 10124 12124

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an exceptionto this rule. Non-mosaicpatients have more serious manifestations and earlier death [Kamiker et al., 19851. The severity of malformations in our patient does not correlate very well with the finding of only 15% trisomic cells in peripheral lymphocytes. An explanation that cannot be ruled out could be the presence of higher proportion of trisomic cells in other tissues. We also think it is important to describe additional or unusual manifestations that may contribute to expand the phenotypic spectrum of a well-established syndrome, allowing a more accurate diagnosis and prognosis of the affected individuals.

ACKNOWLEDGMENTS The authors thank Dr. Trinidad Delpino for her valuable help with the radiographs.

REFERENCES Bowen P, Ying KL, Chung GSH (1974):Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr 8595-97. Feingold M, Atkins L (1973):A case of trisomy 9. J Med Genet 10:184187. Haslam RHA, Broske SP, Moore CM, Thomas GH, Neil1 CA (1973): Trisomy 9 mosaicism with multiple congenital anomalies. J Med Genet 10180-183. Kamiker CP, Dain L, Lamas MA (1985):Mosaic trisomy 9 syndrome with unusual phenotype. Am J Med Genet 22~237-241. Levy I, Levy Y, Mammon Z, Nitzan M, Steinherz R (1989):Gastrointestinal abnormalities in the syndrome of mosaic trisomy 9.J Med Genet 26:280-281. Mantagos S, McReynoldsJW, Seashore MR, Breg WR (1981):Complete trisomy 9 in two liveborn infants. J Med Genet 18:377-382. SdnchezJM, Fijtman N, Migliorini AM (1982):Report of a new case and clinical delineation of mosaic trisomy 9 syndrome. J Med Genet 19:384-389.

Trisomy 8: an additional case with unique manifestations [correction].

We report on an infant with multiple congenital anomalies and mosaic trisomy 8 [corrected]. Clinical findings are presented, and compared with those o...
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