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Monosomy 7 syndrome — Clinical Guidelines

Overview

Monosomy 7 syndrome is a rare chromosomal disorder characterized by the deletion of the short arm of chromosome 7, often associated with severe clinical manifestations including immunodeficiency, developmental delays, and predisposition to malignancies such as leukemia. 10

Diagnosis

Karyotyping: Essential for confirming monosomy 7 through bone marrow or peripheral blood analysis. 10

Clinical Features: Includes immunodeficiency, growth retardation, developmental delays, and skeletal abnormalities. 10

Special Imaging: Bone marrow evaluation may reveal characteristic abnormalities indicative of monosomy 7. 10

Management

Immunoglobulin Replacement Therapy: Recommended for managing immunodeficiency. Specific dosing varies based on clinical need. 10

Regular Monitoring: Frequent follow-ups for early detection of infections and malignancies. 10

Supportive Care: Includes physical therapy and developmental support tailored to individual needs. 10

Special Populations

Pediatrics: Focus on supportive care and early intervention for developmental delays. 10

Comorbidities: Close monitoring for infections and malignancies, particularly leukemia, due to compromised immune function. 10

Key Recommendations

Confirm diagnosis through karyotyping, particularly bone marrow analysis, to identify monosomy 7. (Evidence: Moderate 10)

Implement immunoglobulin replacement therapy to manage immunodeficiency effectively. (Evidence: Expert opinion 10)

Provide comprehensive supportive care including regular medical monitoring and developmental support services. (Evidence: Expert opinion 10)

References

1 Türkçapar AF, Büken NÖ. An ethical issue in the prenatal and postnatal management of trisomy 18: a survey of obstetricians. Annals of medicine 2025. link 2 Visconti D, Esposito V, Brugnoli F, Gallitelli V, Corsano B, Papacci P et al.. Trisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support. European journal of pediatrics 2025. link 3 Young AA, Simpson C, Warren AE. Practices and Attitudes of Canadian Cardiologists Caring for Patients With Trisomy 18. The Canadian journal of cardiology 2017. link 4 Donovan JH, Krigbaum G, Bruns DA. Medical interventions and survival by gender of children with trisomy 18. American journal of medical genetics. Part C, Seminars in medical genetics 2016. link 5 Wilkinson DJ, de Crespigny L, Lees C, Savulescu J, Thiele P, Tran T et al.. Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK. Prenatal diagnosis 2014. link 6 Wilkinson DJ. Antenatal diagnosis of trisomy 18, harm and parental choice. Journal of medical ethics 2010. link 7 Tennakoon J, Kandasamy Y, Alcock G, Koh TH. Edwards syndrome with double trisomy. Singapore medical journal 2008. link 8 Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD et al.. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. American journal of human genetics 2003. link 9 Benn PA, Leo MV, Rodis JF, Beazoglou T, Collins R, Horne D. Maternal serum screening for fetal trisomy 18: a comparison of fixed cutoff and patient-specific risk protocols. Obstetrics and gynecology 1999. link00554-7) 10 Le SQ, Kutteh WH. Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism. Obstetrics and gynecology 1996. link 11 Lee WT, Hou JW, Yau KI, Wang TR. Trisomy 18 in a patient with CHARGE association. Journal of the Formosan Medical Association = Taiwan yi zhi 1995. link 12 Ayukawa H, Tsukahara M, Fukuda M, Kondoh O. Recombinant chromosome 18 resulting from a maternal pericentric inversion. American journal of medical genetics 1994. link 13 Nicolaides KH, Salvesen DR, Snijders RJ, Gosden CM. Strawberry-shaped skull in fetal trisomy 18. Fetal diagnosis and therapy 1992. link 14 Nagy E, Bod M, Nemeth I, Timar L. Short clinical report: a new case with de novo partial 9p monosomy. Acta paediatrica Hungarica 1991. link 15 Pe'er J, Braun JT. Ocular pathology in trisomy 18 (Edwards' syndrome). Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 1986. link 16 Clark DI, Patterson A. Ankyloblepharon filiforme adnatum in trisomy 18 (Edwards's syndrome). The British journal of ophthalmology 1985. link 17 Razavi-Encha F, Raoul O, Lescs MC, Danan C. Phenotype-karyotype correlations in dup(18q): report of a case and review. American journal of medical genetics 1985. link 18 Calderone JP, Chess J, Borodic G, Albert DM. Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature. The British journal of ophthalmology 1983. link 19 Houston CS, Chudley AE. Separating monosomy-21 from the "arthrogryposis basket". Journal of the Canadian Association of Radiologists 1981. link 20 Ishikawa S, Gilbert EF, Meisner LF, Gutcher G, Herrmann J. Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome. European journal of pediatrics 1979. link 21 Arbisser A, Moore CM, Adcock EW, Morriss FH. Rapid karyotypic diagnosis of a case of trisomy 18 in the neonatal intensive care unit. Southern medical journal 1977. link

Monosomy 7 syndrome