Selected Photomicrographs

A. Chromosome 4P deletion (Woilf-Hirschhorn syndrome) and chromosome 5p deletion (cri-du-chat syndrome: Figure 23-1

B. Prader-Willi syndrome, Angclman's syndrome, DiGeorge syndrome, Miller-Dicker syndrome: Figure 23-2

C. Robertsonian t(13ql4q), Robertsonian t(14q21q), acute promyelocyte leukemia t (15;17)(q21;q21), chronic myeloid leukemia t(9;22)(q34;ql 1): Figure 23-3

Syndrome Cat Cry

Figure 23-1. Deletion abnormalities. (A) Chromosome 4p deletion (Wolf-Hirschhorn syndrome). The deletion at 4pl6 is shown on chromosome 4. The photograph of a 5-year-old boy with Wolf-Hirschhorn syndrome reveals a prominent forehead and broad nasal root (Greek "warrior helmet"), short philtrum, and down-turned mouth; severe mental retardation (IQ = 20) is a characteristic of this syndrome. (B) Chromosome 5p deletion (cri du chat syndrome or cat's cry syndrome). The deletion at 5pl5 is shown on chromosome 5. The photograph of an infant with cri du chat syndrome shows round facies and microcephaly; this defect also causes mental retardation. (Photo in A from Smith DW, Jones KL: Recognizable Patterns of Human Malformation, 3rd ed. Philadelphia, WB Saunders, 1982, p 37. Photo in B from Salmon MA, Lindenbaum RH: Developmental Defects and Syndromes. Aylesbury, England, HM & M Publishers, 1978, p 321.)

15q11-13 microdeletion

Maternal

Syndrome Cat Cry

15q11-13 microdeletion

Paternal

Syndrome Cat Cry

15q11-13 microdeletion

Maternal

15q11-13 microdeletion

Paternal

21q11 microdeletion l^J

Foot Anomalies Hypotonia

Figure 23-2. Microdeletion abnormalities. (A) Prader-Willi syndrome. The microdeletion at 15ql 1-13 is shown on chromosome 15, which was inherited from the father (paternal). The photograph of a 10-year-old boy with Prader-Willi syndrome shows hypogonadism, hypotonia, obesity, short stature, and small hands and feet. (B) Angel man's syndrome (happy puppet syndrome). The microdeletion at 15ql1-13 is shown on chromosome 15, which was inherited from the mother (maternal). The photograph of a 5-year-old boy with Angelman's syndrome shows the boy's happy disposition; the syndrome is characterized by inappropriate laughter and severe mental retardation (with only a 5-10 word vocabulary). (C) DiGeorge syndrome. The microdeletion at 21 q 11 is shown on chromosome 21. The photomicrograph of a lymph node from a patient with DiGeorge syndrome shows the absence of T lymphocytes within the inner cortex (iC, paracortex, or thymic-dependent zone). The outer cortex (OC) shows abundant B lymphocytes within lymphatic follicles. (D) Miller-Dicker syndrome (agyria, lissencephaly). The microdeletion at 17pl3 is shown on chromosome 17. The photograph of a brain at autopsy from an infant with Millcr-Dieker syndrome shows the complete absence of gyri. (A and B, from Salmon MA, Lindenbaum RH: Developmental Defects and Syndromes. Aylesbury, England, HM & M Publishers, 1978, pp 139 and 169. C and D, from Gilbert- Barness E: Potters Atlas of Fetal and Infant Pathology. St Louis, CV Mosby, 1998, pp 254 and 277.)

17p13

microdeletion

13!

lJ

m

i

i

17

21q11 microdeletion l^J

Figure 23-2. Microdeletion abnormalities. (A) Prader-Willi syndrome. The microdeletion at 15ql 1-13 is shown on chromosome 15, which was inherited from the father (paternal). The photograph of a 10-year-old boy with Prader-Willi syndrome shows hypogonadism, hypotonia, obesity, short stature, and small hands and feet. (B) Angel man's syndrome (happy puppet syndrome). The microdeletion at 15ql1-13 is shown on chromosome 15, which was inherited from the mother (maternal). The photograph of a 5-year-old boy with Angelman's syndrome shows the boy's happy disposition; the syndrome is characterized by inappropriate laughter and severe mental retardation (with only a 5-10 word vocabulary). (C) DiGeorge syndrome. The microdeletion at 21 q 11 is shown on chromosome 21. The photomicrograph of a lymph node from a patient with DiGeorge syndrome shows the absence of T lymphocytes within the inner cortex (iC, paracortex, or thymic-dependent zone). The outer cortex (OC) shows abundant B lymphocytes within lymphatic follicles. (D) Miller-Dicker syndrome (agyria, lissencephaly). The microdeletion at 17pl3 is shown on chromosome 17. The photograph of a brain at autopsy from an infant with Millcr-Dieker syndrome shows the complete absence of gyri. (A and B, from Salmon MA, Lindenbaum RH: Developmental Defects and Syndromes. Aylesbury, England, HM & M Publishers, 1978, pp 139 and 169. C and D, from Gilbert- Barness E: Potters Atlas of Fetal and Infant Pathology. St Louis, CV Mosby, 1998, pp 254 and 277.)

13 14

14 21

Robertsonian t(13q14q)

Robertsonian 21 t(14q21q)

+ Ml3 Lost

Lost

15 17

15 17

Pml Rara Oncogene

Figure 23-3. Translocation abnormalities. (A) Robertsonian t(13ql4q). (J3) Robertsonian t(14q21q). (C) Acute promyelocyte leukemia t( 15; 17)(q21 ;q21 ). The translocation between chromosomes 15 and 17 is shown forming the pml/rara oncogene. The photomicrograph of acute promyelo-cytic leukemia shows abnormal promyelocytes with their characteristic pattern of heavy granulation and bundle of Auer rods. (D) Chronic myeloid leukemia t(9;22)(q34;ql 1). The translocation between chromosomes 9 and 22 is shown forming the Philadelphia chromosome with the abl/bcr oncogene. The photomicrograph of chronic myeloid leukemia shows marked granulocytic hyperplasia with neutrophilic precursors at all stages of maturation. Erythroid (red blood cell) precursors are significantly decreased; none are shown in this field. (C and D, from Mufti GJ, Flandrin G, Schaefer HE et al: An Atlas of Malignant Haematology. Philadelphia, Lippincott-Raven, 1996, PP 73 and 179.)

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